From 3d25c18dcbcf67a20393486d2b00763041a17e3e Mon Sep 17 00:00:00 2001 From: cmungall Date: Tue, 28 Apr 2020 18:31:01 -0700 Subject: [PATCH 01/13] omim merge. fixes #1462 todo #1463 --- src/ontology/mondo-edit.obo | 174 ++++++++++++++++++++++++------------ 1 file changed, 117 insertions(+), 57 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 745c879d61..00fe846fec 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -8060,6 +8060,9 @@ xref: UMLS:C0477373 {source="DOID:0060178", source="MONDO:notFoundInDiseaseSubse is_a: MONDO:0005277 {source="DOID:0060178/inferred", source="NCIT:C117009"} ! migraine disorder is_a: MONDO:0005475 {source="DOID:0060178", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! migraine with aura is_a: MONDO:0023310 {source="MONDO:Redundant", source="MONDO:cjm", source="linkedlifedata"} ! hemiplegic migraine +is_a: MONDO:0018925 {source="MONDO:cjm"} +xref: OMIMPS:141500 {source="MONDO:equivalentTo"} ! migraine, familial hemiplegic +synonym: "FHM" EXACT [OMIM:141500] intersection_of: MONDO:0023310 ! hemiplegic migraine intersection_of: has_modifier MONDO:0021152 ! inherited relationship: disease_has_feature HP:0001269 ! Hemiparesis @@ -132008,6 +132011,7 @@ synonym: "Meesman dystrophy" RELATED [GARD:0009688] synonym: "Meesmann corneal dystrophy" EXACT [OMIM:122100] synonym: "Meesmann corneal epithelial dystrophy" RELATED [GARD:0009688] synonym: "stocker-Holt dystrophy" EXACT [DOID:0060451] +xref: OMIMPS:122100 {source="MONDO:equivalentTo"} ! corneal dystrophy, meesmann xref: DOID:0060451 {source="MONDO:equivalentTo"} xref: GARD:0009688 {source="MONDO:equivalentTo"} xref: ICD10:H18.5 {source="Orphanet:98954", source="ORDO:98954/attributed", source="ORDO:98954/ntbt"} @@ -139113,43 +139117,11 @@ xref: UMLS:C1841639 {source="OMIM:141405", source="NCBI:mim2gene_medline", sourc xref: UMLS:C3536936 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0016375 {source="Orphanet:221083"} ! acquired peripheral movement disorder -[Term] -id: MONDO:0007714 -name: migraine, familial hemiplegic, 1 -def: "A migraine disorder characterized by an aura that includes motor weakness and the absence of family history." [NCIT:C117011] -subset: gard_rare -synonym: "CACNA1A migraine disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "familial hemiplegic migraine type 1" RELATED [GARD:0002638] -synonym: "Fhm" RELATED [OMIM:141500] -synonym: "FHM1" RELATED [GARD:0002638, MONDO:Lexical, OMIM:141500] -synonym: "hemiplegic migraine, familial type 1" RELATED [GARD:0002638] -synonym: "MHP1" RELATED [GARD:0002638] -synonym: "Mhp1" RELATED [OMIM:141500] -synonym: "migraine disorder caused by mutation in CACNA1A" EXACT [MONDO:design_pattern] -synonym: "migraine, familial hemiplegic 1, with progressive cerebellar ataxia" RELATED [GARD:0002638, OMIM:141500] -synonym: "migraine, familial hemiplegic, 1" EXACT [MONDO:Lexical, OMIM:141500] -synonym: "migraine, familial hemiplegic, 1; FHM1" RELATED [OMIM:141500] -synonym: "migraine, familial hemiplegic, type 1" EXACT [MONDORULE:1, OMIM:141500] -synonym: "migraine, sporadic hemiplegic" RELATED [OMIM:141500] -synonym: "sporadic hemiplegic migraine" EXACT [NCIT:C117011] -xref: GARD:0002638 {source="MONDO:equivalentTo"} -xref: NCIT:C117011 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.57"} -xref: OMIM:141500 {source="MONDO:equivalentTo", source="GARD:0002638"} -xref: Orphanet:569 {source="MONDO:subClassOf", source="GARD:0002638", source="OMIM:141500"} -xref: UMLS:C1832884 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:141500"} -xref: UMLS:C1832894 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1832903 {source="NCIT:C117011", source="MONDO:notFoundInDiseaseSubset", source="OMIM:141500"} -is_a: MONDO:0005277 {source="MONDO:Redundant", source="NCIT:C117011"} ! migraine disorder -is_a: MONDO:0018925 {source="ORDO:569/btnt"} ! familial or sporadic hemiplegic migraine -intersection_of: MONDO:0005277 ! migraine disorder -intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1388 ! CACNA1A -relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1388 {source="mim2gene_medgen"} ! CACNA1A -property_value: confidence "1.0" xsd:double [Term] id: MONDO:0007715 -name: hemolytic Poikilocytic anemia due to reduced ankyrin binding sites -synonym: "hemolytic Poikilocytic anemia due to reduced ankyrin binding sites" EXACT [OMIM:141700] +name: hemolytic poikilocytic anemia due to reduced ankyrin binding sites +synonym: "hemolytic poikilocytic anemia due to reduced ankyrin binding sites" EXACT [OMIM:141700] xref: MESH:C564197 {source="MONDO:equivalentTo", source="MONDO:ontobio"} xref: OMIM:141700 {source="MONDO:equivalentTo"} xref: UMLS:C1841622 {source="OMIM:141700", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -144709,26 +144681,25 @@ name: megacystis-microcolon-intestinal hypoperistalsis syndrome def: "Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis." [Orphanet:2241] subset: ordo_malformation_syndrome {source="Orphanet:2241"} synonym: "Berdon syndrome" RELATED [DOID:0060610, OMIM:155310, Orphanet:2241] -synonym: "infantile visceral myopathy" RELATED [OMIM:155310] synonym: "megacystis microcolon intestinal hypoperistalsis syndrome" RELATED [GARD:0003442] synonym: "megacystis, microcolon, hypoperistalsis syndrome" EXACT [NCIT:C98982] synonym: "megacystis, microcolon, intestinal hypoperistalsis syndrome" EXACT [NCIT:C98982] -synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome" EXACT [OMIM:155310] synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH" EXACT [DOID:0060610] synonym: "megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome" EXACT [Orphanet:2241] -synonym: "megaduodenum and/or megacystis" RELATED [OMIM:155310] synonym: "MMIH syndrome" EXACT [NCIT:C98982] synonym: "MMIHS" EXACT [Orphanet:2241] -synonym: "pseudoobstruction, idiopathic intestinal" RELATED [OMIM:155310] -synonym: "visceral myopathy" RELATED [DOID:0060610, MONDO:Lexical, OMIM:155310] -synonym: "visceral myopathy; VSCM" RELATED [OMIM:155310] -synonym: "VSCM" RELATED [MONDO:Lexical, OMIM:155310] +synonym: "visceral myopathy" RELATED EXCLUDE [DOID:0060610] +synonym: "Berdon syndrome" RELATED [OMIM:249210] +synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS" RELATED [OMIM:249210] +xref: Orphanet:2241 {source="OMIM:249210"} +is_a: MONDO:0000001 {source="OMIM:249210"} ! disease or disorder +xref: OMIM:249210 {source="MONDO:equivalentTo"} ! megacystis-microcolon-intestinal hypoperistalsis syndrome xref: DOID:0060610 {source="MONDO:equivalentTo"} xref: GARD:0003442 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:Q43.8 {source="DOID:0060610", source="ORDO:2241/attributed", source="ORDO:2241/ntbt", source="Orphanet:2241"} xref: MESH:C536138 {source="MONDO:equivalentTo", source="DOID:0060610"} xref: NCIT:C98982 {source="MONDO:kboom-pr-0.75/0.37/0.62", source="MONDO:equivalentTo"} -xref: OMIM:155310 {source="MONDO:equivalentTo", source="DOID:0060610"} +xref: OMIM:155310 {source="DOID:0060610"} xref: OMIM:249210 {source="Orphanet:2241", source="ORDO:2241/e"} xref: Orphanet:2241 {source="MONDO:equivalentTo", source="DOID:0060610"} xref: Orphanet:2604 {source="MONDO:superClassOf", source="OMIM:155310"} @@ -144742,6 +144713,19 @@ is_a: MONDO:0019721 {source="Orphanet:2241"} ! syndromic renal or urinary tract is_a: MONDO:0021189 {source="Orphanet:2241"} ! intestinal motility disease relationship: has_modifier MONDO:0021136 {source="MONDO:0015184"} ! rare +[Term] +id: MONDO:0020754 +name: visceral myopathy +synonym: "infantile visceral myopathy" RELATED [OMIM:155310] +synonym: "megaduodenum and/or megacystis" RELATED [OMIM:155310] +synonym: "pseudoobstruction, idiopathic intestinal" RELATED [OMIM:155310] +synonym: "visceral myopathy; VSCM" RELATED [OMIM:155310] +xref: UMLS:C0042781 {source="OMIM:155310"} +xref: UMLS:C1608393 {source="OMIM:155310"} +xref: Orphanet:2604 {source="OMIM:155310"} +is_a: MONDO:0000001 {source="OMIM:155310"} ! disease or disorder +xref: OMIM:155310 {source="MONDO:equivalentTo"} ! visceral myopathy + [Term] id: MONDO:0007961 name: megalencephaly, autosomal dominant @@ -201808,14 +201792,27 @@ def: "X-linked intellectual disability, Turner type is characterised by moderate subset: ordo_malformation_syndrome {source="Orphanet:85328"} synonym: "mental retardation and macrocephaly syndrome" EXACT [DOID:0060811, OMIM:300706] synonym: "mental retardation, X-linked syndromic, Turner type" EXACT [DOID:0060811] -synonym: "mental retardation, X-linked, syndromic, TURNER type" RELATED [MONDO:Lexical, OMIM:300706] -synonym: "mental retardation, X-linked, syndromic, TURNER type; MRXST" RELATED [OMIM:300706] +synonym: "mental retardation, X-linked, syndromic, Turner type" RELATED [MONDO:Lexical, OMIM:300706] +synonym: "mental retardation, X-linked, syndromic, Turner type; MRXST" RELATED [OMIM:300706] synonym: "MRXST" EXACT [DOID:0060811, MONDO:Lexical, OMIM:300706] synonym: "X-linked intellectual disability, Turner type" RELATED [Orphanet:85328] +synonym: "Brooks-Wisniewski-Brown Syndrome" RELATED [OMIM:309590] +synonym: "Juberg-Marsidi Syndrome" RELATED [OMIM:309590] +synonym: "mental retardation and macrocephaly syndrome" RELATED [OMIM:309590] +synonym: "mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Type" RELATED [OMIM:309590] +synonym: "mental retardation, X-linked, syndromic, Turner type; MRXST" RELATED [OMIM:309590] +synonym: "mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism" RELATED [OMIM:309590] +xref: UMLS:C0796003 {source="OMIM:309590"} +xref: UMLS:C0796272 {source="OMIM:309590"} +xref: UMLS:C2678046 {source="OMIM:309590"} +xref: Orphanet:85328 {source="OMIM:309590"} +is_a: MONDO:0020119 {source="OMIM:309590"} ! X-linked syndromic intellectual disability +is_a: MONDO:0000001 {source="OMIM:309590"} ! disease or disorder +xref: OMIM:309590 {source="MONDO:equivalentTo"} ! mental retardation, x-linked, syndromic, turner type xref: DOID:0060811 {source="MONDO:equivalentTo"} xref: ICD10:Q87.8 {source="ORDO:85328/attributed", source="ORDO:85328/ntbt", source="DOID:0060811", source="Orphanet:85328"} xref: MESH:C567476 {source="MONDO:equivalentTo", source="MONDO:ontobio"} -xref: OMIM:300706 {source="ORDO:85328/e", source="MONDO:equivalentTo", source="DOID:0060811", source="Orphanet:85328"} +xref: OMIM:300706 {source="ORDO:85328/e", source="MONDO:equivalentObsolete", source="DOID:0060811", source="Orphanet:85328"} xref: Orphanet:85328 {source="OMIM:300706", source="MONDO:equivalentTo", source="DOID:0060811"} xref: UMLS:C2678046 {source="OMIM:300706", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:85328"} is_a: MONDO:0020119 {source="DC-OMIM:300706", source="DOID:0060811", source="OMIM:300706", source="Orphanet:85328"} ! X-linked syndromic intellectual disability @@ -233079,7 +233076,7 @@ is_a: MONDO:0005277 {source="DC-OMIM:607508", source="OMIM:607508/inferred"} ! m id: MONDO:0011851 name: migraine with or without aura, susceptibility to, 6 subset: predisposition -synonym: "Mgr6" RELATED [OMIM:607516] +synonym: "MGR6" RELATED [OMIM:607516] synonym: "migraine with or without aura, susceptibility to, 6" EXACT [OMIM:607516] synonym: "migraine with or without aura, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:607516] synonym: "migraine, familial hemiplegic, 4" RELATED [OMIM:607516] @@ -358240,6 +358237,7 @@ property_value: confidence "1.964285714285714" xsd:double id: MONDO:0018925 name: familial or sporadic hemiplegic migraine def: "Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM)." [Orphanet:569] +synonym: "hemiplegic migraine" EXACT [] subset: ordo_disease {source="Orphanet:569"} xref: ICD10:G43.1 {source="Orphanet:569", source="ORDO:569/inclusion", source="ORDO:569/ntbt"} xref: OMIM:141500 {source="Orphanet:569", source="MONDO:superClassOf", source="ORDO:569/btnt"} @@ -358247,11 +358245,56 @@ xref: OMIM:602481 {source="Orphanet:569", source="MONDO:superClassOf", source="O xref: OMIM:607516 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:569", source="ORDO:569/ntbt"} xref: OMIM:609634 {source="Orphanet:569", source="MONDO:superClassOf", source="ORDO:569/btnt"} xref: Orphanet:569 {source="MONDO:equivalentTo"} -is_a: MONDO:0015642 {source="Orphanet:569"} ! benign partial infantile seizures -is_a: MONDO:0015953 {source="Orphanet:569"} ! genetic central nervous system and retinal vascular disease +property_value: excluded_subClassOf MONDO:0015642 {source="Orphanet:569"} ! benign partial infantile seizures +property_value: excluded_subClassOf MONDO:0015953 {source="Orphanet:569"} ! genetic central nervous system and retinal vascular disease is_a: MONDO:0020676 {source="Orphanet:569"} ! disease of central nervous system or retinal vasculature relationship: has_modifier MONDO:0021136 {source="MONDO:0019110"} ! rare -property_value: confidence "1.0" xsd:double + +[Term] +id: MONDO:0020757 +name: sporadic hemiplegic migraine +def: "A migraine disorder characterized by an aura that includes motor weakness and the absence of family history." [NCIT:C117011] +synonym: "sporadic hemiplegic migraine" EXACT [NCIT:C117011] +xref: UMLS:C1832903 {source="NCIT:C117011", source="MONDO:notFoundInDiseaseSubset", source="OMIM:141500"} +is_a: MONDO:0018925 {source="MONDO:cjm"} +is_a: MONDO:0005277 {source="NCIT:C117011"} ! migraine disorder +xref: NCIT:C117011 {source="MONDO:equivalentTo"} ! sporadic hemiplegic migraine +disjoint_from: MONDO:0000700 + + +[Term] +id: MONDO:0020756 +name: migraine, familial hemiplegic, 1 +subset: gard_rare +synonym: "MHP1" EXACT [OMIM:141500] +synonym: "migraine, familial hemiplegic 1, with progressive cerebellar ataxia" EXACT [OMIM:141500] +synonym: "migraine, familial hemiplegic, 1; FHM1" EXACT [OMIM:141500] +synonym: "migraine, sporadic hemiplegic" EXACT [OMIM:141500] +synonym: "familial hemiplegic migraine type 1" EXACT [GARD:0002638] +synonym: "FHM1" EXACT [GARD:0002638, MONDO:Lexical, OMIM:141500] +synonym: "hemiplegic migraine, familial type 1" EXACT [GARD:0002638] +synonym: "MHP1" EXACT [GARD:0002638] +synonym: "MHP1" EXACT [OMIM:141500] +synonym: "migraine, familial hemiplegic 1, with progressive cerebellar ataxia" EXACT [GARD:0002638, OMIM:141500] +synonym: "migraine, familial hemiplegic, 1" EXACT [MONDO:Lexical, OMIM:141500] +synonym: "migraine, familial hemiplegic, 1; FHM1" EXACT [OMIM:141500] +synonym: "migraine, familial hemiplegic, type 1" EXACT [MONDORULE:1, OMIM:141500] +xref: UMLS:C1832884 {source="OMIM:141500"} +xref: UMLS:C1832903 {source="OMIM:141500"} +xref: GARD:0002638 {source="MONDO:equivalentTo"} +xref: Orphanet:569 {source="OMIM:141500"} +is_a: MONDO:0000001 {source="OMIM:141500"} ! disease or disorder +xref: OMIM:141500 {source="MONDO:equivalentTo"} ! migraine, familial hemiplegic, 1 +xref: UMLS:C1832884 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:141500"} +xref: UMLS:C1832894 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} +relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1388 {source="mim2gene_medgen"} ! CACNA1A + +[Term] +id: MONDO:0007714 +name: obsolete migraine, familial hemiplegic, 1 +consider: MONDO:0020756 +consider: MONDO:0000700 +is_obsolete: true [Term] id: MONDO:0018926 @@ -358274,8 +358317,8 @@ name: SUNCT syndrome def: "SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing)." [Orphanet:57145] subset: ordo_disease {source="Orphanet:57145"} synonym: "short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing" EXACT [Orphanet:57145] -synonym: "short-lasting, unilateral, neuralgiform headache attacks with conjunctival injection and tearing" RELATED [GARD:0009257] -synonym: "SUNCT headache" RELATED [GARD:0009257] +synonym: "short-lasting, unilateral, neuralgiform headache attacks with conjunctival injection and tearing" EXACT [GARD:0009257] +synonym: "SUNCT headache" EXACT [GARD:0009257] xref: GARD:0009257 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: ICD10:G44.8 {source="ORDO:57145/ntbt", source="Orphanet:57145"} xref: MedDRA:10061981 {source="ORDO:57145/e", source="Orphanet:57145"} @@ -358304,8 +358347,8 @@ replaced_by: MONDO:0005154 id: MONDO:0018929 name: medial condensing osteitis of the clavicle subset: ordo_disease {source="Orphanet:57196"} -synonym: "condensing osteitis of the clavicle" RELATED [GARD:0010910] -synonym: "condensing osteitis of the medial clavicle" RELATED [GARD:0010910] +synonym: "condensing osteitis of the clavicle" EXACT [GARD:0010910] +synonym: "condensing osteitis of the medial clavicle" EXACT [GARD:0010910] synonym: "osteitis condensans of the clavicle" EXACT [Orphanet:57196] xref: GARD:0010910 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:M85.3 {source="ORDO:57196/ntbt", source="Orphanet:57196"} @@ -371598,8 +371641,6 @@ def: "X-linked form of nonsyndromic deafness." [MONDO:patterns/x_linked] comment: ORDO classification not correct: https://github.com/monarch-initiative/monarch-disease-ontology/issues/408 subset: clingen subset: gard_rare -synonym: "deafness, X-linked" EXACT [OMIMPS:304500] -synonym: "deafness, X-linked, DFN" RELATED [GARD:0001715] synonym: "nonsyndromic deafness, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "nonsyndromic genetic deafness, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "X-linked deafness" EXACT [DOID:0050566] @@ -371613,7 +371654,7 @@ synonym: "X-linked non-syndromic sensorineural deafness type DFN" RELATED [Orpha synonym: "X-linked non-syndromic sensorineural hearing loss type DFN" EXACT [Orphanet:90625] synonym: "X-linked nonsyndromic genetic deafness" EXACT [MONDO:design_pattern] xref: DOID:0050566 {source="MONDO:equivalentTo"} -xref: GARD:0001715 {source="MONDO:equivalentTo"} +xref: OMIMPS:304500 {source="DOID:0050566"} xref: ICD10:H90.3 {source="ORDO:90625/attributed", source="ORDO:90625/ntbt", source="DOID:0050566", source="Orphanet:90625"} xref: OMIM:300030 {source="ORDO:90625/btnt", source="DOID:0050566", source="MONDO:superClassOf", source="Orphanet:90625"} xref: OMIM:300066 {source="ORDO:90625/btnt", source="DOID:0050566", source="MONDO:superClassOf", source="Orphanet:90625"} @@ -371621,14 +371662,26 @@ xref: OMIM:300614 {source="DOID:0050566", source="MONDO:superClassOf"} xref: OMIM:300914 {source="ORDO:90625/btnt", source="DOID:0050566", source="MONDO:superClassOf", source="Orphanet:90625"} xref: OMIM:304400 {source="DOID:0050566", source="MONDO:superClassOf"} xref: OMIM:304500 {source="ORDO:90625/btnt", source="DOID:0050566", source="MONDO:superClassOf", source="Orphanet:90625"} -xref: OMIMPS:304500 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:90625 {source="DOID:0050566", source="MONDO:equivalentTo"} xref: UMLS:CN206422 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0016297 {source="Orphanet:90625"} ! prelingual non-syndromic genetic deafness is_a: MONDO:0016298 {source="Orphanet:90625"} ! postlingual non-syndromic genetic deafness +is_a: MONDO:0020768 {source="MONDO:cjm"} ! X-linked deafness intersection_of: MONDO:0019497 ! nonsyndromic genetic deafness intersection_of: has_modifier HP:0001417 ! X-linked inheritance +[Term] +id: MONDO:0020768 +name: X-linked deafness +comment: Note that this encompasses both syndromic and non-syndromic types. +synonym: "deafness, X-linked" EXACT [OMIMPS:304500] +synonym: "DFNX" EXACT [MONDO:cjm] +synonym: "deafness, X-linked, DFN" EXACT [GARD:0001715] +xref: GARD:0001715 {source="MONDO:equivalentTo"} +xref: OMIMPS:304500 {source="MONDO:cjm", source="MONDO:equivalentTo"} +intersection_of: MONDO:0005365 ! hearing loss disorder +intersection_of: has_modifier HP:0001417 ! X-linked inheritance + [Term] id: MONDO:0019587 name: autosomal dominant nonsyndromic deafness @@ -423663,6 +423716,13 @@ subset: ordo_malformation_syndrome xref: Orphanet:500188 {source="MONDO:equivalentTo"} is_a: MONDO:0015502 {source="Orphanet:500188"} ! pinnae and external auditory canal anomaly is_a: MONDO:0019589 {source="Orphanet:500188"} ! syndromic genetic deafness +synonym: "deafness, X-linked 7; DFNX7" EXACT [OMIM:301018] +synonym: "deafness, X-linked 7" EXACT [OMIM:301018] +synonym: "DFNX7" EXACT [OMIM:301018] +xref: UMLS:C4746975 {source="OMIM:301018"} +xref: Orphanet:500188 {source="OMIM:301018"} +is_a: MONDO:0020768 {source="MONDO:301018"} ! X-linked deafness +xref: OMIM:301018 {source="MONDO:equivalentTo"} ! deafness, x-linked 7 relationship: has_modifier HP:0001417 ! X-linked inheritance [Term] From 1a1854a1de7ff3ad183d5275df0d4ad601d7d1d1 Mon Sep 17 00:00:00 2001 From: cmungall Date: Tue, 28 Apr 2020 18:54:22 -0700 Subject: [PATCH 02/13] mt complex deficiencies; deferring on nuclear subtypes for now. See #1042 --- src/ontology/mondo-edit.obo | 53 ++++++++++++++++++++++++++++++++----- 1 file changed, 46 insertions(+), 7 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 00fe846fec..c9e9168ddd 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -89918,6 +89918,7 @@ xref: NCIT:C113482 {source="EFO:0003821", source="MONDO:otherHierarchy"} xref: NCIT:C89715 {source="EFO:0003821", source="MONDO:equivalentTo", source="DOID:6364"} xref: OMIM:157300 {source="EFO:0003821", source="MONDO:superClassOf", source="DOID:6364"} xref: OMIM:613656 {source="EFO:0003821", source="MONDO:superClassOf", source="DOID:6364"} +xref: OMIMPS:157300 {source="MONDO:equivalentTo"} ! migraine with or without aura, susceptibility to xref: SCTID:155046006 {source="DOID:6364"} xref: SCTID:155048007 {source="DOID:6364"} xref: SCTID:193028008 {source="EFO:0003821"} @@ -164620,6 +164621,7 @@ synonym: "plant sterol storage disease" RELATED [GARD:0007653] synonym: "retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body" RELATED [GARD:0007653] synonym: "sitosterolemia" EXACT [OMIM:210250] synonym: "STSL" RELATED [OMIM:210250] +xref: OMIMPS:210250 {source="MONDO:equivalentTo"} ! sitosterolemia xref: DOID:0090019 {source="MONDO:equivalentTo"} xref: GARD:0007653 {source="MONDO:equivalentTo"} xref: ICD10:E78.0 {source="Orphanet:2882", source="ORDO:2882/attributed", source="ORDO:2882/ntbt", source="DOID:0090019"} @@ -171834,6 +171836,7 @@ xref: MESH:D004819 {source="Orphanet:302", source="DOID:13777", source="MONDO:eq xref: NCIT:C126877 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"} xref: OMIM:226400 {source="Orphanet:302", source="DOID:13777", source="MONDO:equivalentTo", source="ORDO:302/e"} xref: OMIM:305350 {source="Orphanet:302", source="MONDO:superClassOf", source="ORDO:302/btnt"} +xref: OMIMPS:226400 {source="MONDO:equivalentTo"} ! epidermodysplasia verruciformis, susceptibility to xref: Orphanet:302 {source="OMIM:226400", source="MONDO:equivalentTo"} xref: SCTID:19138001 {source="DOID:13777", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"} xref: UMLS:C0014522 {source="Orphanet:302", source="DOID:13777", source="OMIM:226400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C126877", source="ORDO:302/e"} @@ -182667,10 +182670,17 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18 relationship: disease_has_feature MONDO:0019118 {source="modified-Orphanet:2518"} ! inherited retinal dystrophy property_value: confidence "2.25" xsd:double +[Term] +id: MONDO:0033211 +name: diencephalic-mesencephalic junction dysplasia syndrome +is_a: MONDO:0003847 ! inherited genetic disease +xref: OMIMPS:251280 {source="MONDO:equivalentTo"} ! diencephalic-mesencephalic junction dysplasia syndrome + [Term] id: MONDO:0009625 -name: microcephaly with spastic quadriplegia +name: diencephalic-mesencephalic junction dysplasia syndrome 1 subset: gard_rare {source="GARD:0008510"} +synonym: "DMJDS1" EXACT [OMIM:251280] synonym: "microcephaly with spastic quadriplegia" EXACT [OMIM:251280] synonym: "microcephaly, seizures, spasticity, and brain calcifications" RELATED [OMIM:251280] synonym: "microcephaly, seizures, spasticity, and brain calcifications; MISSBC" RELATED [OMIM:251280] @@ -182680,9 +182690,17 @@ xref: GARD:0008510 {source="MONDO:equivalentTo"} xref: MESH:C537546 {source="MONDO:equivalentTo", source="MONDO:ontobio"} xref: OMIM:251280 {source="MONDO:equivalentTo"} xref: UMLS:C1855055 {source="OMIM:251280", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! inherited genetic disease +is_a: MONDO:0033211 {source="OMIM:251280"} ! diencephalic-mesencephalic junction dysplasia syndrome property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8510/microcephaly-with-spastic-quadriplegia xsd:anyURI {source="GARD:0008510"} +[Term] +id: MONDO:0020762 +name: diencephalic-mesencephalic junction dysplasia syndrome 2 +synonym: "DMJDS2" EXACT [OMIM:618646] +synonym: "spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia" RELATED [OMIM:618646] +is_a: MONDO:0033211 {source="OMIM:618646"} ! diencephalic-mesencephalic junction dysplasia syndrome +xref: OMIM:618646 {source="MONDO:equivalentTo"} ! diencephalic-mesencephalic junction dysplasia syndrome 2 + [Term] id: MONDO:0009626 name: pseudo-TORCH syndrome @@ -182992,21 +183010,23 @@ replaced_by: MONDO:0016825 id: MONDO:0009640 name: mitochondrial complex I deficiency def: "Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms)." [Orphanet:2609] +comment: Editor note: consider splitting out nuclear type subclass, as OMIMPS:252010 refers to nuclear only. See https://github.com/monarch-initiative/mondo/issues/1042 subset: clingen subset: gard_rare {source="GARD:0003908"} subset: ordo_disease {source="Orphanet:2609"} -synonym: "Complex 1 mitochondrial respiratory chain deficiency" RELATED [GARD:0003908] +synonym: "complex 1 mitochondrial respiratory chain deficiency" RELATED [GARD:0003908] synonym: "isolated complex I deficiency" RELATED [GARD:0003908] synonym: "isolated mitochondrial respiratory chain complex I deficiency" EXACT [DOID:0060536, Orphanet:2609] synonym: "isolated NADH-coenzyme Q reductase deficiency" EXACT [DOID:0060536, Orphanet:2609] synonym: "isolated NADH-CoQ reductase deficiency" EXACT [DOID:0060536, Orphanet:2609] synonym: "isolated NADH-ubiquinone reductase deficiency" EXACT [DOID:0060536, Orphanet:2609] -synonym: "mitochondrial Complex 1 deficiency" RELATED [OMIM:252010] +synonym: "mitochondrial complex 1 deficiency" RELATED [OMIM:252010] synonym: "mitochondrial complex I deficiency" EXACT [OMIM:252010] synonym: "mitochondrial NADH dehydrogenase component of Complex I, deficiency of" RELATED [OMIM:252010] synonym: "NADH coenzyme Q reductase deficiency" RELATED [GARD:0003908] -synonym: "NADH-Coenzyme Q reductase deficiency" RELATED [OMIM:252010] +synonym: "NADH-coenzyme Q reductase deficiency" RELATED [OMIM:252010] synonym: "NADH:Q(1) oxidoreductase deficiency" RELATED [OMIM:252010] +xref: OMIMPS:252010 {source="MONDO:equivalentTo"} ! mitochondrial complex i deficiency, nuclear type xref: DOID:0060536 {source="MONDO:equivalentTo"} xref: GARD:0003908 {source="MONDO:equivalentTo"} xref: ICD10:G71.3 {source="ORDO:2609/attributed", source="ORDO:2609/ntbt", source="Orphanet:2609"} @@ -183026,6 +183046,14 @@ intersection_of: disease_has_basis_in_dysfunction_of GO:0005747 ! mitochondrial property_value: confidence "21.666666666666732" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3908/mitochondrial-complex-i-deficiency xsd:anyURI {source="GARD:0003908"} +[Term] +id: MONDO:0027068 +name: mitochondrial complex 1 deficiency, mitochondrial type 1 +synonym: "mitochondrial complex i deficiency, mitochondrial type 1; MC1DM1" RELATED [OMIM:500014] +xref: UMLS:C4746992 {source="OMIM:500014"} +is_a: MONDO:0000001 {source="OMIM:500014"} ! disease or disorder +xref: OMIM:500014 {source="MONDO:equivalentTo"} ! mitochondrial complex 1 deficiency, mitochondrial type 1 + [Term] id: MONDO:0009641 name: mitochondrial complex II deficiency @@ -223895,7 +223923,7 @@ synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, Atpaf2 type" RELATE synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 1" RELATED [OMIM:604273] synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1" EXACT [MONDO:Lexical, OMIM:604273] synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1; MC5DN1" RELATED [OMIM:604273] -synonym: "mitochondrial complex V deficiency" RELATED [GARD:0001459] +synonym: "mitochondrial complex V deficiency" BROAD [GARD:0001459] synonym: "mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2" EXACT [MONDO:design_pattern] xref: DOID:0050768 {source="MONDO:equivalentTo"} xref: GARD:0001459 {source="MONDO:equivalentTo"} @@ -287119,6 +287147,15 @@ intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_dysfunction_of GO:0005753 ! mitochondrial proton-transporting ATP synthase complex relationship: excluded_subClassOf MONDO:0016805 {source="Orphanet:254913"} ! isolated oxidative phosphorylation complex disorder +[Term] +id: MONDO:0027069 +name: mitochondrial complex 5 (atp synthase) deficiency, mitochondrial type 1 +synonym: "mitochondrial complex V (ATP synthase) deficiency, mitochondrial type 1; MC5DM1" EXACT [OMIM:500015] +synonym: "MC5DM1" EXACT [OMIM:500015] +xref: UMLS:C3275684 {source="OMIM:500015"} +is_a: MONDO:0014471 +xref: OMIM:500015 {source="MONDO:equivalentTo"} ! mitochondrial complex 5 (atp synthase) deficiency, mitochondrial type 1 + [Term] id: MONDO:0014472 name: periodic fever-infantile enterocolitis-autoinflammatory syndrome @@ -316935,7 +316972,7 @@ id: MONDO:0016256 name: Hennekam syndrome def: "Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism." [Orphanet:2136] subset: ordo_malformation_syndrome {source="Orphanet:2136"} -synonym: "Hennekam lymphangiectasia lymphedema syndrome" RELATED [GARD:0003318] +synonym: "Hennekam lymphangiectasia lymphedema syndrome" EXACT [GARD:0003318] synonym: "Hennekam lymphangiectasia-lymphedema syndrome" EXACT [DOID:0060366] synonym: "intestinal lymphagiectasia lymphedema intellectual deficit syndrome" RELATED [GARD:0003318] synonym: "lymphangiectasies and lymphedema Hennekam type" RELATED [GARD:0003318] @@ -316946,6 +316983,7 @@ xref: GARD:0003318 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:Q87.8 {source="Orphanet:2136", source="ORDO:2136/attributed", source="ORDO:2136/ntbt"} xref: ICD9:457.1 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537255 {source="DOID:0060366"} +xref: OMIMPS:235510 {source="MONDO:equivalentTo"} ! hennekam lymphangiectasia-lymphedema syndrome xref: OMIM:235510 {source="DOID:0060366", source="Orphanet:2136", source="MONDO:superClassOf", source="ORDO:2136/btnt"} xref: OMIM:616006 {source="DOID:0060366", source="Orphanet:2136", source="MONDO:superClassOf", source="ORDO:2136/btnt"} xref: Orphanet:2136 {source="DOID:0060366", source="MONDO:equivalentTo"} @@ -355503,6 +355541,7 @@ synonym: "keratitis, ichthyosis, and deafness (KID) syndrome" RELATED [GARD:0003 synonym: "keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome" EXACT [Orphanet:477] synonym: "KID/HID syndrome" EXACT [Orphanet:477] synonym: "Senter syndrome" EXACT [Orphanet:477] +xref: OMIMPS:148210 {source="MONDO:equivalentTo"} ! keratitis-ichthyosis-deafness syndrome xref: GARD:0003113 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:Q80.8 {source="Orphanet:477", source="ORDO:477/attributed", source="ORDO:477/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} From 34e426119fbb4203822980df7f26f37b527fe1b3 Mon Sep 17 00:00:00 2001 From: cmungall Date: Tue, 28 Apr 2020 19:07:26 -0700 Subject: [PATCH 03/13] seizures --- src/ontology/mondo-edit.obo | 75 ++++++++++++++++++++++++++----------- 1 file changed, 53 insertions(+), 22 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index c9e9168ddd..a9fc5f54d2 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -29900,6 +29900,7 @@ xref: DOID:14711 {source="MONDO:equivalentTo"} xref: GARD:0002317 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537923 {source="DOID:14711"} +xref: OMIMPS:305400 {source="MONDO:equivalentTo"} ! fg syndrome xref: OMIM:300321 {source="MONDO:superClassOf", source="GARD:0002317", source="DOID:14711"} xref: OMIM:300406 {source="MONDO:superClassOf", source="GARD:0002317", source="DOID:14711"} xref: OMIM:300422 {source="MONDO:superClassOf", source="GARD:0002317", source="DOID:14711"} @@ -199314,15 +199315,16 @@ synonym: "anhidrotic ectodermal dysplasia with immunodeficiency" EXACT [Orphanet synonym: "ectodermal dysplasia, anhidrotic, with immune deficiency" RELATED [OMIM:300291] synonym: "ectodermal dysplasia, hypohidrotic, with immune deficiency" RELATED [OMIM:300291] synonym: "EDA-ID" EXACT [Orphanet:98813] -synonym: "EDA-Id" RELATED [OMIM:300291] +synonym: "EDA-ID" EXACT [OMIM:300291] synonym: "HED-ID" EXACT [Orphanet:98813] -synonym: "HED-Id" RELATED [OMIM:300291] +synonym: "HED-ID" EXACT [OMIM:300291] synonym: "hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia" RELATED [OMIM:300291] synonym: "hypohidrotic ectodermal dysplasia with immune deficiency" EXACT [NCIT:C118844] synonym: "Xhm-Ed" RELATED [OMIM:300291] xref: GARD:0009936 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: ICD10:D82.8 {source="ORDO:98813/attributed", source="ORDO:98813/ntbt", source="Orphanet:98813"} xref: NCIT:C118844 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"} +xref: OMIMPS:300291 {source="MONDO:equivalentTo"} ! ectodermal dysplasia and immune deficiency xref: OMIM:300291 {source="ORDO:98813/e", source="Orphanet:98813", source="MONDO:superClassOf"} xref: OMIM:612132 {source="ORDO:98813/btnt", source="Orphanet:98813", source="MONDO:superClassOf"} xref: Orphanet:238468 {source="MONDO:subClassOf", source="OMIM:300291"} @@ -208562,22 +208564,22 @@ subset: ordo_malformation_syndrome {source="Orphanet:2750"} synonym: "OFD syndrome 1" RELATED [GARD:0004121] synonym: "OFD1" EXACT [MONDO:Lexical, OMIM:311200, Orphanet:2750] synonym: "OFDI" EXACT [Orphanet:2750] -synonym: "Ofds 1" RELATED [OMIM:311200] +synonym: "OFDS 1" EXACT [OMIM:311200] synonym: "OFDSI" EXACT [Orphanet:2750] -synonym: "oral facial digital syndrome 1" RELATED [GARD:0004121] -synonym: "oral facial digital syndrome type 1" RELATED [GARD:0004121] -synonym: "oral-facial-digital syndrome 1" RELATED [GARD:0004121] +synonym: "oral facial digital syndrome 1" EXACT [GARD:0004121] +synonym: "oral facial digital syndrome type 1" EXACT [GARD:0004121] +synonym: "oral-facial-digital syndrome 1" EXACT [GARD:0004121] synonym: "oral-facial-digital syndrome type 1" EXACT [Orphanet:2750] -synonym: "oral-Facial-digital syndrome, type 1" RELATED [OMIM:311200] +synonym: "oral-facial-digital syndrome, type 1" EXACT [OMIM:311200] synonym: "orofaciodigital syndrome 1" EXACT [DOID:0060316] synonym: "orofaciodigital syndrome I" EXACT [MONDO:Lexical, OMIM:311200] -synonym: "orofaciodigital syndrome I; OFD1" RELATED [OMIM:311200] +synonym: "orofaciodigital syndrome I; OFD1" EXACT [OMIM:311200] synonym: "orofaciodigital syndrome type 1" EXACT [MONDORULE:1, OMIM:311200] synonym: "orofaciodigital syndrome type I" EXACT [DOID:0060316, MONDORULE:1] -synonym: "Papillon-LC)age-Psaume syndrome" EXACT [Orphanet:2750] -synonym: "Papillon-Leage and Psaume syndrome" RELATED [OMIM:311200] +synonym: "Papillon-Leage-Psaume syndrome" EXACT [Orphanet:2750] +synonym: "Papillon-Leage and Psaume syndrome" EXACT [OMIM:311200] synonym: "Papillon-Leage-Psaume syndrome" EXACT [DOID:0060316] -synonym: "Papillon-league-Psaume syndrome (formerly)" RELATED [GARD:0004121] +synonym: "Papillon-league-Psaume syndrome (formerly)" EXACT [GARD:0004121] synonym: "Papillon-Léage-Psaume syndrome" EXACT [Orphanet:2750] xref: DOID:0060316 {source="MONDO:equivalentTo"} xref: GARD:0004121 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} @@ -209956,19 +209958,36 @@ is_a: MONDO:0010595 {source="MONDOLEX:0010763"} ! Sertoli cell-only syndrome is_a: MONDO:0015607 {source="ORDO:1646/btnt"} ! partial chromosome Y deletion property_value: confidence "0.18928571428571428" xsd:double +[Term] +id: MONDO:0033304 +name: nonsyndromic deafness, Y-linked +xref: OMIMPS:400043 {source="MONDO:equivalentTo"} ! deafness, y-linked +is_a: MONDO:0003847 ! inherited genetic disease +intersection_of: MONDO:0019497 ! nonsyndromic genetic deafness +intersection_of: has_modifier HP:0001450 ! Y-linked inheritance + [Term] id: MONDO:0010764 -name: DFNY1 -synonym: "deafness, Y-linked 1" RELATED [MONDO:Lexical, OMIM:400043] -synonym: "deafness, Y-linked 1; DFNY1" RELATED [OMIM:400043] +name: deafness, Y-linked 1 +synonym: "deafness, Y-linked 1" EXACT [MONDO:Lexical, OMIM:400043] +synonym: "deafness, Y-linked 1; DFNY1" EXACT [OMIM:400043] synonym: "DFNY1" EXACT [MONDO:Lexical, OMIM:400043] xref: OMIM:400043 {source="MONDO:equivalentTo"} xref: UMLS:C1824927 {source="OMIM:400043", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3888076 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="MONDO:Redundant", source="indirect"} ! inherited genetic disease +is_a: MONDO:0033304 is_a: MONDO:0019497 ! nonsyndromic genetic deafness relationship: has_modifier HP:0001450 ! Y-linked inheritance +[Term] +id: MONDO:0027048 +name: deafness, Y-linked 2 +synonym: "DFNY2" EXACT [OMIM:400047] +xref: UMLS:C5193013 {source="OMIM:400047"} +is_a: MONDO:0033304 +is_a: MONDO:0000001 {source="OMIM:400047"} ! disease or disorder +xref: OMIM:400047 {source="MONDO:equivalentTo"} ! deafness, y-linked 2 + [Term] id: MONDO:0010765 name: 46,XY complete gonadal dysgenesis @@ -211347,9 +211366,6 @@ def: "Childhood absence epilepsy (CAE) is a familial generalized pediatric epile subset: ordo_disease {source="Orphanet:64280"} subset: predisposition synonym: "absence seizure" RELATED [DOID:1825] -synonym: "ECA1" RELATED [MONDO:Lexical, OMIM:600131] -synonym: "epilepsy, childhood absence, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:600131] -synonym: "epilepsy, childhood absence, susceptibility to, 1; ECA1" RELATED [OMIM:600131] synonym: "petit mal seizure" RELATED [CSP2005:0485-7316, DOID:1825] synonym: "pyknolepsy" EXACT [DOID:1825, Orphanet:64280] xref: DOID:1825 {source="MONDO:equivalentTo"} @@ -211358,7 +211374,8 @@ xref: ICD10:G40.A {source="DOID:1825"} xref: MESH:D004832 {source="DOID:1825"} xref: NCIT:C3023 {source="DOID:1825"} xref: NCIT:C50436 {source="MONDO:otherHierarchy", source="DOID:1825"} -xref: OMIM:600131 {source="ORDO:64280/e", source="MONDO:equivalentTo", source="Orphanet:64280"} +xref: OMIMPS:600131 {source="MONDO:equivalentTo"} ! epilepsy, childhood absence +xref: OMIM:600131 {source="ORDO:64280/e", source="MONDO:superClassOf", source="Orphanet:64280"} xref: OMIM:607681 {source="MONDO:superClassOf", source="ORDO:64280/btnt", source="Orphanet:64280"} xref: OMIM:611136 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:64280/ntbt", source="Orphanet:64280"} xref: OMIM:611942 {source="MONDO:superClassOf", source="ORDO:64280/btnt", source="Orphanet:64280"} @@ -211379,7 +211396,17 @@ xref: UMLS:C1838604 {source="OMIM:600131", source="NCBI:mim2gene_medline", sourc is_a: MONDO:0000414 {source="DOID:1825"} ! childhood electroclinical syndrome is_a: MONDO:0020072 {source="Orphanet:64280/inferred", source="http://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome relationship: disease_has_feature HP:0002121 ! Absence seizures -property_value: confidence "1.1309583424662981" xsd:double + +[Term] +id: MONDO:0020759 +name: epilepsy, childhood absence, susceptibility to, 1 +synonym: "epilepsy, childhood absence, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:600131] +synonym: "epilepsy, childhood absence, susceptibility to, 1; ECA1" RELATED [OMIM:600131] +synonym: "ECA1" EXACT [OMIM:600131] +xref: UMLS:C1838604 {source="OMIM:600131"} +xref: Orphanet:64280 {source="OMIM:600131"} +is_a: MONDO:0010826 {source="OMIM:600131"} ! childhood absence epilepsy +xref: OMIM:600131 {source="MONDO:equivalentTo"} ! epilepsy, childhood absence, susceptibility to, 1 [Term] id: MONDO:0010827 @@ -303382,6 +303409,7 @@ synonym: "oral-facial-digital syndrome" EXACT [Orphanet:140997] synonym: "oral-facial-digital syndromes" RELATED [GARD:0010692] synonym: "orofaciodigital syndrome" EXACT [MONDO:0003020] synonym: "orofaciodigital syndromes" RELATED [GARD:0010692] +xref: OMIMPS:311200 {source="MONDO:equivalentTo"} ! orofaciodigital syndrome xref: DOID:4501 {source="MONDO:equivalentTo"} xref: GARD:0010692 {source="MONDO:equivalentTo"} xref: ICD10:Q87.0 {source="ORDO:140997/ntbt", source="ORDO:140997/inclusion", source="Orphanet:140997"} @@ -359390,6 +359418,7 @@ xref: ICD10:Q87.81 {source="MONDO:equivalentTo"} xref: MedDRA:10001843 {source="Orphanet:63", source="ORDO:63/e"} xref: MESH:D009394 {source="DOID:10983", source="MONDO:relatedTo", source="Orphanet:63", source="ORDO:63/e"} xref: NCIT:C34842 {source="MONDO:kboom-pr-0.89/0.78/0.06", source="MONDO:equivalentTo"} +xref: OMIMPS:301050 {source="MONDO:equivalentTo"} ! alport syndrome xref: OMIM:104200 {source="MONDO:superClassOf", source="ORDO:63/btnt", source="Orphanet:63"} xref: OMIM:203780 {source="MONDO:superClassOf", source="ORDO:63/btnt", source="Orphanet:63"} xref: OMIM:301050 {source="MONDO:superClassOf", source="ORDO:63/btnt", source="Orphanet:63"} @@ -373373,6 +373402,7 @@ synonym: "spondyloepimetaphyseal dysplasia joint laxity" RELATED [GARD:0004982] synonym: "spondyloepimetaphyseal dysplasia with joint laxity" EXACT [GARD:0004982] synonym: "spondyloepimetaphyseal dysplasia with joint laxity type 1" EXACT [Orphanet:93359] synonym: "spondyloepimetaphyseal dysplasia with joint laxity, Beighton type" EXACT [Orphanet:93359] +xref: OMIMPS:271640 {source="MONDO:equivalentTo"} ! spondyloepimetaphyseal dysplasia with joint laxity xref: DC:0000688 {source="MONDO:equivalentTo"} xref: GARD:0004982 {source="MONDO:equivalentTo"} xref: ICD10:Q77.7 {source="ORDO:93359/attributed", source="ORDO:93359/ntbt", source="Orphanet:93359"} @@ -382455,6 +382485,7 @@ xref: OMIM:608098 {source="ORDO:98892/btnt", source="DOID:0050454", source="MOND xref: OMIM:612881 {source="ORDO:98892/btnt", source="DOID:0050454", source="MONDO:superClassOf", source="Orphanet:98892"} xref: OMIM:615544 {source="ORDO:98892/btnt", source="DOID:0050454", source="MONDO:superClassOf", source="Orphanet:98892"} xref: OMIM:617201 {source="MONDO:superClassOf", source="Orphanet:98892"} +xref: OMIMPS:300049 {source="MONDO:equivalentTo"} ! periventricular nodular heterotopia xref: Orphanet:98892 {source="DOID:0050454", source="MONDO:equivalentTo"} xref: SCTID:448227009 {source="DOID:0050454", source="MONDO:superClassOf"} xref: UMLS:C1848213 {source="DOID:0050454", source="MONDO:notFoundInDiseaseSubset"} @@ -388140,9 +388171,9 @@ id: MONDO:0020740 name: ectodermal dysplasia and immunodeficiency 1 synonym: "ectodermal dysplasia, anhidrotic, with immune deficiency 1" RELATED [OMIM:300291] synonym: "ectodermal dysplasia, hypohidrotic, with immune deficiency 1" RELATED [OMIM:300291] -synonym: "EDA-Id" RELATED [OMIM:300291] +synonym: "EDA-Id" BROAD [OMIM:300291] synonym: "EDAID1" EXACT [OMIM:300291] -synonym: "HED-Id" RELATED [OMIM:300291] +synonym: "HED-Id" BROAD [OMIM:300291] xref: OMIM:300291 {source="ORDO:98813/e", source="MONDO:equivalentTo", source="Orphanet:98813"} xref: Orphanet:238468 {source="MONDO:subClassOf", source="OMIM:300291"} xref: Orphanet:98813 {source="MONDO:subClassOf", source="OMIM:300291"} From 8b7bb8efccb5dba15aabcbf1d7646628afaa3dd7 Mon Sep 17 00:00:00 2001 From: cmungall Date: Tue, 28 Apr 2020 19:15:25 -0700 Subject: [PATCH 04/13] EIG --- src/ontology/mondo-edit.obo | 45 +++++++++++++++---------------------- 1 file changed, 18 insertions(+), 27 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index a9fc5f54d2..f42261351e 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -96077,11 +96077,16 @@ relationship: disease_has_feature HP:0002829 ! Arthralgia [Term] id: MONDO:0005579 -name: generalised epilepsy +name: epilepsy, idiopathic generalized def: "A chronic condition characterised by recurrent generalised seizures." [NCIT:P378] synonym: "generalised epilepsy" EXACT [DOID:1827] -synonym: "Generalized epilepsy" EXACT [NCIT:C3021] +synonym: "generalized epilepsy" EXACT [NCIT:C3021] synonym: "idiopathic generalized epilepsy" RELATED [DOID:1827] +synonym: "epilepsy, idiopathic generalized" RELATED [MONDO:Lexical, OMIM:600669] +synonym: "epilepsy, idiopathic generalized; EIG" RELATED [OMIM:600669] +synonym: "idiopathic generalized epilepsy" RELATED [OMIM:600669] +synonym: "EIG" EXACT [MONDO:cjm] +xref: OMIMPS:600669 {source="MONDO:equivalentTo"} ! epilepsy, idiopathic generalized xref: DOID:1827 {source="MONDO:equivalentTo", source="EFO:0005917"} xref: EFO:0005917 {source="MONDO:equivalentTo"} xref: MESH:D004829 {source="MONDO:equivalentTo", source="DOID:1827"} @@ -213326,14 +213331,10 @@ property_value: confidence "2.410526315789474" xsd:double [Term] id: MONDO:0010918 -name: EIG +name: EIG1 subset: predisposition synonym: "EIG" EXACT [MONDO:Lexical, OMIM:600669] -synonym: "epilepsy, idiopathic generalized" RELATED [MONDO:Lexical, OMIM:600669] synonym: "epilepsy, idiopathic generalized, susceptibility to, 1" RELATED [OMIM:600669] -synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 8" RELATED [OMIM:600669] -synonym: "epilepsy, idiopathic generalized; EIG" RELATED [OMIM:600669] -synonym: "idiopathic generalized epilepsy" RELATED [OMIM:600669] xref: ICD9:345.10 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562694 {source="MONDO:equivalentTo", source="MONDO:ontobio"} xref: OMIM:600669 {source="MONDO:equivalentTo"} @@ -213341,7 +213342,6 @@ xref: SCTID:36803009 {source="MONDO:kboom-pr-1.00/0.79/7.87", source="MONDO:equi xref: UMLS:C0270850 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:600669"} xref: UMLS:C2748799 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:600669"} xref: UMLS:C2748800 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:600669"} -is_a: MONDO:0003847 ! inherited genetic disease is_a: MONDO:0005579 {source="DC-OMIM:600669", source="MESH:C562694", source="linkedlifedata"} ! generalised epilepsy [Term] @@ -225592,7 +225592,6 @@ xref: OMIM:604827 {source="MONDO:equivalentTo"} xref: Orphanet:307 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="OMIM:604827"} xref: UMLS:C1414366 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:604827"} xref: UMLS:C2751729 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:604827"} -is_a: MONDO:0003847 ! inherited genetic disease is_a: MONDO:0005579 {source="DC-OMIM:604827"} ! generalised epilepsy [Term] @@ -230988,7 +230987,6 @@ synonym: "epilepsy, idiopathic generalized, susceptibility to, 2; EIG2" RELATED synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 14" RELATED [OMIM:606972] xref: OMIM:606972 {source="MONDO:equivalentTo"} xref: UMLS:C1846992 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:606972"} -is_a: MONDO:0003847 ! inherited genetic disease is_a: MONDO:0005579 {source="DC-OMIM:606972"} ! generalised epilepsy [Term] @@ -233610,9 +233608,8 @@ xref: UMLS:C0393697 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDis xref: UMLS:C2750893 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:607628"} xref: UMLS:C2750894 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:607628"} xref: UMLS:C2750895 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:607628"} -intersection_of: MONDO:0020573 ! inherited disease susceptibility +intersection_of: MONDO:0005579 ! generalised epilepsy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2020 ! CLCN2 -intersection_of: predisposes_towards MONDO:0005579 ! generalised epilepsy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2020 {source="mim2gene_medgen"} ! CLCN2 [Term] @@ -234032,9 +234029,8 @@ xref: OMIM:607682 {source="MONDO:equivalentTo"} xref: Orphanet:307 {source="MONDO:subClassOf", source="MONDO:superClassOf", source="OMIM:607682"} xref: UMLS:C2750887 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:607682"} xref: UMLS:C2750888 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:607682"} -intersection_of: MONDO:0020573 ! inherited disease susceptibility +intersection_of: MONDO:0005579 ! generalised epilepsy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1404 ! CACNB4 -intersection_of: predisposes_towards MONDO:0005579 ! generalised epilepsy [Term] id: MONDO:0011893 @@ -238742,7 +238738,6 @@ synonym: "epilepsy, idiopathic generalized, susceptibility to, 3; EIG3" RELATED synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 9" RELATED [OMIM:608762] xref: OMIM:608762 {source="MONDO:equivalentTo"} xref: UMLS:C1837468 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608762"} -is_a: MONDO:0003847 ! inherited genetic disease is_a: MONDO:0005579 {source="DC-OMIM:608762"} ! generalised epilepsy [Term] @@ -243214,7 +243209,6 @@ synonym: "epilepsy, idiopathic generalized, susceptibility to, 4; EIG4" RELATED synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10" RELATED [OMIM:609750] xref: OMIM:609750 {source="MONDO:equivalentTo"} xref: UMLS:C1857851 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:609750"} -is_a: MONDO:0003847 ! inherited genetic disease is_a: MONDO:0005579 {source="DC-OMIM:609750"} ! generalised epilepsy [Term] @@ -249233,6 +249227,7 @@ id: MONDO:0012627 name: epilepsy, idiopathic generalized, susceptibility to, 13 def: "Any juvenile myoclonic epilepsy in which the cause of the disease is a mutation in the GABRA1 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition +comment: Editor note: check classification under EIG synonym: "EIG13" RELATED [MONDO:Lexical, OMIM:611136] synonym: "epilepsy, childhood absence, susceptibility to, 4" RELATED [OMIM:611136] synonym: "epilepsy, idiopathic generalized, susceptibility to, 13" EXACT [MONDO:Lexical, OMIM:611136] @@ -249248,9 +249243,9 @@ xref: Orphanet:307 {source="MONDO:subClassOf", source="OMIM:611136", source="MON xref: Orphanet:64280 {source="MONDO:relatedTo", source="OMIM:611136", source="MONDO:superClassOf"} xref: UMLS:C1970160 {source="OMIM:611136", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2749942 {source="OMIM:611136", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -intersection_of: MONDO:0020573 ! inherited disease susceptibility +is_a: MONDO:0005579 {source="MONDO:cjm"} ! generalised epilepsy +intersection_of: MONDO:0009696 ! juvenile myoclonic epilepsy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4075 ! GABRA1 -intersection_of: predisposes_towards MONDO:0009696 ! juvenile myoclonic epilepsy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4075 {source="mim2gene_medgen"} ! GABRA1 [Term] @@ -252005,7 +252000,6 @@ synonym: "epilepsy, idiopathic generalized, susceptibility to, 5; EIG5" RELATED synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10" RELATED [OMIM:611934] xref: OMIM:611934 {source="MONDO:equivalentTo"} xref: UMLS:C2677808 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:611934"} -is_a: MONDO:0003847 ! inherited genetic disease is_a: MONDO:0005579 {source="DC-OMIM:611934"} ! generalised epilepsy [Term] @@ -257512,9 +257506,8 @@ synonym: "generalised epilepsy caused by mutation in CASR" EXACT [MONDO:design_p synonym: "susceptibility to idiopathic generalized epilepsy 8" RELATED [OMIM:612899] xref: OMIM:612899 {source="MONDO:equivalentTo"} xref: UMLS:C2752062 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612899"} -intersection_of: MONDO:0020573 ! inherited disease susceptibility +intersection_of: MONDO:0005579 ! generalised epilepsy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1514 ! CASR -intersection_of: predisposes_towards MONDO:0005579 ! generalised epilepsy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1514 {source="mim2gene_medgen"} ! CASR property_value: confidence "3.0" xsd:double @@ -258994,9 +258987,8 @@ xref: UMLS:C3150398 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:613060 xref: UMLS:C3150399 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:613060"} xref: UMLS:C3150400 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:613060"} xref: UMLS:C3150401 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:613060"} -intersection_of: MONDO:0020573 ! inherited disease susceptibility +intersection_of: MONDO:0005579 ! generalised epilepsy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4084 ! GABRD -intersection_of: predisposes_towards MONDO:0005579 ! generalised epilepsy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4084 {source="mim2gene_medgen"} ! GABRD relationship: predisposes_towards MONDO:0009696 ! juvenile myoclonic epilepsy @@ -275830,8 +275822,7 @@ synonym: "epilepsy, idiopathic generalized, susceptibility to, type 12" EXACT [M synonym: "susceptibility to idiopathic generalized epilepsy 12" RELATED [OMIM:614847] xref: OMIM:614847 {source="MONDO:equivalentTo"} xref: UMLS:C3553859 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:614847"} -is_a: MONDO:0020573 {source="OMIM:614847"} ! inherited disease susceptibility -relationship: predisposes_towards MONDO:0005579 ! generalised epilepsy +is_a: MONDO:0005579 ! generalised epilepsy property_value: confidence "3.0" xsd:double [Term] @@ -292536,9 +292527,9 @@ synonym: "epilepsy, idiopathic generalized, susceptibility to, type 14" EXACT [M synonym: "susceptibility to idiopathic generalized epilepsy 14" RELATED [OMIM:616685] xref: OMIM:616685 {source="MONDO:equivalentTo"} xref: UMLS:C4225245 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0020573 {source="OMIM:616685"} ! inherited disease susceptibility +intersection_of: MONDO:0005579 ! generalised epilepsy +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13818 ! SLC12A5 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13818 {source="mim2gene_medgen"} ! SLC12A5 -relationship: predisposes_towards MONDO:0005579 ! generalised epilepsy property_value: confidence "3.0" xsd:double [Term] From 5f16c09b3ccee8adfa8a99deecf3f643a6c7573a Mon Sep 17 00:00:00 2001 From: cmungall Date: Tue, 28 Apr 2020 19:16:42 -0700 Subject: [PATCH 05/13] PS for mt complex V. deferring on nuclear subtypes for now. See #1042 --- src/ontology/mondo-edit.obo | 2 ++ 1 file changed, 2 insertions(+) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index f42261351e..356acba6d3 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -287147,11 +287147,13 @@ id: MONDO:0014471 name: mitochondrial proton-transporting ATP synthase complex deficiency def: "A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS)." [Orphanet:254913] subset: ordo_disease {source="Orphanet:254913"} +comment: Consider splitting out nuclear type for OMIMPS synonym: "isolated ATP synthase deficiency" NARROW [Orphanet:254913] synonym: "isolated mitochondrial respiratory chain complex V deficiency" NARROW [Orphanet:254913] synonym: "mitochondrial complex V (ATP synthase) deficiency" EXACT [DOID:0111143] xref: DOID:0111143 {source="MONDO:equivalentTo"} xref: ICD10:E88.8 {source="ORDO:254913/attributed", source="ORDO:254913/ntbt", source="Orphanet:254913"} +xref: OMIMPS:604273 {source="MONDO:equivalentTo"} ! mitochondrial complex v (atp synthase) deficiency, nuclear type xref: OMIM:604273 {source="ORDO:254913/btnt", source="MONDO:superClassOf", source="Orphanet:254913"} xref: OMIM:614053 {source="ORDO:254913/btnt", source="MONDO:superClassOf", source="Orphanet:254913"} xref: OMIM:615228 {source="ORDO:254913/btnt", source="MONDO:superClassOf", source="Orphanet:254913"} From a514620a4ce908bc6fbf6507e2132ea86d35572c Mon Sep 17 00:00:00 2001 From: cmungall Date: Tue, 28 Apr 2020 19:53:40 -0700 Subject: [PATCH 06/13] omim --- src/ontology/mondo-edit.obo | 185 +++++++++++++++++++++++++++++++++--- 1 file changed, 170 insertions(+), 15 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 356acba6d3..93f21018f8 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -207394,6 +207394,28 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/37 property_value: confidence "8.375" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7011/melnick-needles-syndrome xsd:anyURI {source="GARD:0007011"} +[Term] +id: MONDO:0020774 +name: Menke-Hennekam syndrome +xref: OMIMPS:618332 {source="MONDO:equivalentTo"} ! Menke-Hennekam syndrome +is_a: MONDO:0003847 ! inherited genetic disease + +[Term] +id: MONDO:0020763 +name: Menke-Hennekam syndrome 1 +synonym: "Menke-Hennekam syndrome 1; MKHK1" RELATED [OMIM:618332] +xref: UMLS:C5193034 {source="OMIM:618332"} +is_a: MONDO:0020774 {source="OMIM:618332"} ! Menke-Hennekam syndrome +xref: OMIM:618332 {source="MONDO:equivalentTo"} ! Menke-Hennekam syndrome 1 + +[Term] +id: MONDO:0020769 +name: Menke-Hennekam syndrome 2 +synonym: "Menke-Hennekam syndrome 2; MKHK2" RELATED [OMIM:618333] +xref: UMLS:C5193035 {source="OMIM:618333"} +is_a: MONDO:0020774 {source="OMIM:618333"} ! Menke-Hennekam syndrome +xref: OMIM:618333 {source="MONDO:equivalentTo"} ! Menke-Hennekam syndrome 2 + [Term] id: MONDO:0010651 name: Menkes disease @@ -226228,6 +226250,33 @@ name: obsolete Sebastian syndrome is_obsolete: true replaced_by: MONDO:0007954 +[Term] +id: MONDO:0033352 +name: neuropathy, congenital hypomelinating +synonym: "CHN" EXACT [MONDO:cjm] +xref: OMIMPS:605253 {source="MONDO:equivalentTo"} ! neuropathy, congenital hypomelinating +is_a: MONDO:0020127 {source="MONDO:cjm"} ! genetic peripheral neuropathy + +[Term] +id: MONDO:0020765 +name: neuropathy, congenital hypomyelinating, 2 +synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING, 2; CHN2" RELATED [OMIM:618184] +synonym: "CHN2" RELATED [OMIM:618184] +xref: UMLS:C4722277 {source="OMIM:618184"} +xref: Orphanet:64748 {source="OMIM:618184"} +is_a: MONDO:0033352 {source="OMIM:618184"} ! neuropathy, congenital hypomelinating +xref: OMIM:618184 {source="MONDO:equivalentTo"} ! neuropathy, congenital hypomyelinating, 2 + +[Term] +id: MONDO:0020766 +name: neuropathy, congenital hypomyelinating, 3 +synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING, 3; CHN3" RELATED [OMIM:618186] +synonym: "CHN3" RELATED [OMIM:618186] +xref: UMLS:C4748608 {source="OMIM:618186"} +xref: Orphanet:2680 {source="OMIM:618186"} +is_a: MONDO:0033352 {source="OMIM:618186"} ! neuropathy, congenital hypomelinating +xref: OMIM:618186 {source="MONDO:equivalentTo"} ! neuropathy, congenital hypomyelinating, 3 + [Term] id: MONDO:0011527 name: Charcot-Marie-Tooth disease type 4E @@ -226235,6 +226284,7 @@ def: "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinati comment: Not part of the OMIM series 118220 but maybe it should be? Alternate titles CHARCOT-MARIE-Tooth DISEASE, TYPE 4E; CMT4E and CHARCOT-MARIE-Tooth NEUROPATHY, TYPE 4E. {source="OMIM:605253"} subset: gard_rare subset: ordo_disease {source="Orphanet:99951"} +synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE; CHN1" RELATED [OMIM:605253] synonym: "autosomal recessive congenital hypomyelinating neuropathy" EXACT [GARD:0006170, Orphanet:99951] synonym: "autosomal recessive congenital hypomyelinating or amyelinating neuropathy" EXACT [DOID:0110195] synonym: "Charcot Marie Tooth disease type 4E" RELATED [GARD:0009203] @@ -226265,7 +226315,7 @@ xref: UMLS:C0393818 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDis xref: UMLS:C3551756 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:605253"} is_a: MONDO:0015626 {source="DOID:0110195/inferred", source="MESH:C535301", source="MONDO:Redundant", source="OMIM:605253", source="Orphanet:99951/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018995 {source="DOID:0110195", source="Orphanet:99951"} ! Charcot-Marie-Tooth disease type 4 -property_value: confidence "22.333333333333353" xsd:double +is_a: MONDO:0033352 {source="OMIM:605253"} ! neuropathy, congenital hypomelinating property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6170/congenital-hypomyelination-neuropathy xsd:anyURI {source="GARD:0006170"} [Term] @@ -232015,6 +232065,22 @@ is_a: MONDO:0020573 {source="OMIM:607248"} ! inherited disease susceptibility relationship: predisposes_towards MONDO:0015917 ! malignant glioma property_value: confidence "0.6200000000000001" xsd:double +[Term] +id: MONDO:0020771 +name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy +synonym: "SCAN" EXACT [MONDO:cjm] +xref: OMIMPS:607250 {source="MONDO:equivalentTo"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy +is_a: MONDO:0015244 {source="MONDO:cjm"} ! autosomal recessive cerebellar ataxia + +[Term] +id: MONDO:0020770 +name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 +synonym: "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3; SCAN3" RELATED [OMIM:618387] +synonym: "SCAN3" RELATED [OMIM:618387] +xref: UMLS:C5193070 {source="OMIM:618387"} +is_a: MONDO:0020771 {source="OMIM:618387"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy +xref: OMIM:618387 {source="MONDO:equivalentTo"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 + [Term] id: MONDO:0011801 name: spinocerebellar ataxia type 1 with axonal neuropathy @@ -233608,6 +233674,9 @@ xref: UMLS:C0393697 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDis xref: UMLS:C2750893 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:607628"} xref: UMLS:C2750894 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:607628"} xref: UMLS:C2750895 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:607628"} +is_a: MONDO:0009696 {source="OMIM:607628"} ! juvenile myoclonic epilepsy +is_a: MONDO:0005579 {source="OMIM:607628"} ! epilepsy, idiopathic generalized +is_a: MONDO:0011876 {source="OMIM:607628"} ! juvenile absence epilepsy intersection_of: MONDO:0005579 ! generalised epilepsy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2020 ! CLCN2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2020 {source="mim2gene_medgen"} ! CLCN2 @@ -233618,20 +233687,19 @@ name: juvenile absence epilepsy def: "Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks." [Orphanet:1941] subset: ordo_disease {source="Orphanet:1941"} subset: predisposition -synonym: "EJA1" RELATED [MONDO:Lexical, OMIM:607631] synonym: "epilepsy juvenile absence" RELATED [GARD:0002162] synonym: "epilepsy, juvenile absence, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:607631] synonym: "epilepsy, juvenile absence, susceptibility to, 1; EJA1" RELATED [OMIM:607631] synonym: "epilepsy, juvenile absence, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:607631] synonym: "JAE" EXACT [Orphanet:1941] -synonym: "Jae1" RELATED [OMIM:607631] synonym: "susceptibility to juvenile absence epilepsy 1" RELATED [OMIM:607631] xref: DOID:0060172 {source="MONDO:equivalentTo"} xref: GARD:0002162 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10:G40.3 {source="ORDO:1941/attributed", source="ORDO:1941/ntbt", source="Orphanet:1941"} xref: MESH:C535495 {source="Orphanet:1941", source="ORDO:1941/e"} xref: NCIT:C129868 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"} -xref: OMIM:607631 {source="MONDO:equivalentTo", source="Orphanet:1941", source="ORDO:1941/e"} +xref: OMIMPS:607631 {source="MONDO:equivalentTo"} ! epilepsy, juvenile absence +xref: OMIM:607631 {source="MONDO:superClassOf", source="Orphanet:1941", source="ORDO:1941/e"} xref: Orphanet:1941 {source="MONDO:equivalentTo", source="OMIM:607631"} xref: SCTID:230413002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"} xref: UMLS:C0014553 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -233644,6 +233712,17 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16 relationship: predisposes_towards MONDO:0011876 ! juvenile absence epilepsy property_value: confidence "1.1309583424662981" xsd:double +[Term] +id: MONDO:0020772 +name: epilepsy, juvenile absence, susceptibility to, 1 +synonym: "EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1; EJA1" RELATED [OMIM:607631] +synonym: "JAE1" RELATED [OMIM:607631] +xref: UMLS:C2750892 {source="OMIM:607631"} +xref: Orphanet:1941 {source="OMIM:607631"} +is_a: MONDO:0011876 {source="OMIM:607631"} ! juvenile absence epilepsy +is_a: MONDO:0000001 {source="OMIM:607631"} ! disease or disorder +xref: OMIM:607631 {source="MONDO:equivalentTo"} ! epilepsy, juvenile absence, susceptibility to, 1 + [Term] id: MONDO:0011877 name: autosomal dominant osteopetrosis 1 @@ -236807,21 +236886,45 @@ synonym: "capillary malformation-arteriovenous malformation; CMAVM" RELATED [OMI synonym: "CM-AVM" EXACT [Orphanet:137667] synonym: "CM-AVM syndrome" RELATED [GARD:0011904] synonym: "CMAVM" RELATED [MONDO:Lexical, OMIM:608354] +xref: OMIMPS:608354 {source="MONDO:equivalentTo"} ! capillary malformation-arteriovenous malformation xref: GARD:0011904 {source="MONDO:equivalentTo"} xref: ICD10:Q27.3 {source="Orphanet:137667", source="ORDO:137667/attributed", source="ORDO:137667/ntbt"} xref: ICD9:747.69 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C564254 {source="MONDO:equivalentTo", source="MONDO:ontobio"} -xref: OMIM:608354 {source="ORDO:137667/e", source="Orphanet:137667", source="MONDO:equivalentTo"} +xref: OMIM:608354 {source="ORDO:137667/e", source="Orphanet:137667", source="MONDO:superClassOf"} xref: Orphanet:137667 {source="MONDO:equivalentTo", source="OMIM:608354"} xref: SCTID:703533007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"} xref: UMLS:C1842180 {source="NCBI:mim2gene_medline", source="Orphanet:137667", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608354"} xref: UMLS:C2675370 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:608354"} is_a: MONDO:0016229 {source="Orphanet:137667"} ! genetic vascular anomaly is_a: MONDO:0016231 {source="Orphanet:137667", source="linkedlifedata", source="linkedlifedata/inferred"} ! capillary malformation -relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9871 {source="mim2gene_medgen"} ! RASA1 -property_value: confidence "7.125" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11904/capillary-malformation-arteriovenous-malformation-syndrome xsd:anyURI {source="GARD:0011904"} +[Term] +id: MONDO:0020783 +name: capillary malformation-arteriovenous malformation 1 +synonym: "Capillary Malformation-Arteriovenous Malformation" RELATED [OMIM:608354] +synonym: "CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM1" RELATED [OMIM:608354] +xref: UMLS:C1842180 {source="OMIM:608354"} +xref: UMLS:C4747394 {source="OMIM:608354"} +xref: Orphanet:137667 {source="OMIM:608354"} +xref: Orphanet:2346 {source="OMIM:608354"} +xref: Orphanet:90307 {source="OMIM:608354"} +is_a: MONDO:0012016 {source="OMIM:608354"} ! capillary malformation-arteriovenous malformation syndrome +is_a: MONDO:0000001 {source="OMIM:608354"} ! disease or disorder +xref: OMIM:608354 {source="MONDO:equivalentTo"} ! capillary malformation-arteriovenous malformation 1 +relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9871 {source="mim2gene_medgen"} ! RASA1 + +[Term] +id: MONDO:0020785 +name: capillary malformation-arteriovenous malformation 2 +synonym: "CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2; CMAVM2" RELATED [OMIM:618196] +xref: UMLS:C4748670 {source="OMIM:618196"} +xref: Orphanet:1053 {source="OMIM:618196"} +is_a: MONDO:0012016 {source="OMIM:618196"} ! capillary malformation-arteriovenous malformation syndrome +is_a: MONDO:0000001 {source="OMIM:618196"} ! disease or disorder +xref: OMIM:618196 {source="MONDO:equivalentTo"} ! capillary malformation-arteriovenous malformation 2 + [Term] id: MONDO:0012017 name: Parkes Weber syndrome @@ -296671,16 +296774,25 @@ name: encephalopathy, progressive, early-onset, with brain edema and/or leukoenc subset: ordo_disease synonym: "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" EXACT [OMIM:617186] synonym: "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy; PEBEL" EXACT [MONDOLEX:0014960] -synonym: "NAD(P)HX epimerase deficiency" EXACT [Orphanet:555407] synonym: "PEBEL" EXACT ABBREVIATION [MONDOLEX:0014960, OMIM:617186] -xref: EFO:0009158 {source="MONDO:equivalentTo"} -xref: OMIM:617186 {source="MONDO:equivalentTo", source="Orphanet:555407"} -xref: Orphanet:555407 {source="MONDO:equivalentTo"} +xref: OMIMPS:617186 {source="MONDO:equivalentTo"} ! encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy xref: UMLS:C4310675 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="EFO:0009158"} ! inherited genetic disease is_a: MONDO:0019058 {source="Orphanet:555407"} ! neurometabolic disease -is_a: MONDO:0019602 {source="Orphanet:555407"} ! other inborn metabolic disease is_a: MONDO:0024237 {source="Orphanet:555407"} ! inherited neurodegenerative disorder + +[Term] +id: MONDO:0020781 +name: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 +synonym: "NAD(P)HX epimerase deficiency" EXACT [Orphanet:555407] +synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1; PEBEL1" RELATED [OMIM:617186] +xref: Orphanet:555407 {source="MONDO:equivalentTo"} +xref: UMLS:C4310675 {source="OMIM:617186"} +xref: Orphanet:555407 {source="OMIM:617186"} +xref: EFO:0009158 {source="MONDO:equivalentTo"} +is_a: MONDO:0014960 {source="OMIM:617186"} ! encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy +is_a: MONDO:0000001 {source="OMIM:617186"} ! disease or disorder +xref: OMIM:617186 {source="MONDO:equivalentTo"} ! encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 relationship: disease_has_basis_in_disruption_of GO:0052856 ! NADHX epimerase activity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18453 {source="Orphanet:555407", source="mim2gene_medgen"} ! NAXE relationship: has_modifier HP:0000007 {source="Orphanet:555407"} ! Autosomal recessive inheritance @@ -296997,10 +297109,30 @@ synonym: "cone-rod dystrophy and hearing loss" EXACT [OMIM:617236] synonym: "cone-rod dystrophy and hearing loss; CRDHL" EXACT [MONDOLEX:0014980] synonym: "CRDHL" EXACT ABBREVIATION [MONDOLEX:0014980, OMIM:617236] xref: EFO:0009151 {source="MONDO:equivalentTo"} -xref: OMIM:617236 {source="MONDO:equivalentTo"} +xref: OMIMPS:617236 {source="MONDO:equivalentTo"} ! cone-rod dystrophy and hearing loss xref: UMLS:C4310657 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="EFO:0009151"} ! inherited genetic disease + +[Term] +id: MONDO:0020778 +! ALREADY HAVE THIS: id: MONDO:0014980 ! cone-rod dystrophy and hearing loss +name: cone-rod dystrophy and hearing loss 1 +synonym: "CONE-ROD DYSTROPHY AND HEARING LOSS 1; CRDHL1" RELATED [OMIM:617236] +synonym: "Crdhl" RELATED [OMIM:617236] +xref: UMLS:C5193018 {source="OMIM:617236"} +is_a: MONDO:0014980 {source="OMIM:617236"} ! cone-rod dystrophy and hearing loss +is_a: MONDO:0000001 {source="OMIM:617236"} ! disease or disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25740 {source="mim2gene_medgen"} ! CEP78 +xref: OMIM:617236 {source="MONDO:equivalentTo"} ! cone-rod dystrophy and hearing loss 1 + +[Term] +id: MONDO:0020780 +name: cone-rod dystrophy and hearing loss 2 +synonym: "CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2" RELATED [OMIM:618358] +xref: UMLS:C5193051 {source="OMIM:618358"} +is_a: MONDO:0014980 {source="OMIM:618358"} ! cone-rod dystrophy and hearing loss +is_a: MONDO:0000001 {source="OMIM:618358"} ! disease or disorder +xref: OMIM:618358 {source="MONDO:equivalentTo"} ! cone-rod dystrophy and hearing loss 2 [Term] id: MONDO:0014981 @@ -359960,6 +360092,7 @@ xref: OMIM:615217 {source="Orphanet:64753", source="MONDO:superClassOf", source= xref: Orphanet:64753 {source="MONDO:equivalentTo"} xref: SCTID:725408001 {source="MONDO:equivalentTo"} xref: UMLS:CN205441 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} +is_a: MONDO:0020771 {source="OMIM:606002"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy is_a: MONDO:0015244 {source="DOID:0050755", source="MONDO:Redundant", source="Orphanet:64753/inferred"} ! autosomal recessive cerebellar ataxia is_a: MONDO:0020045 {source="Orphanet:64753"} ! autosomal recessive cerebellar ataxia due to a DNA repair defect is_a: MONDO:0020127 {source="Orphanet:64753"} ! genetic peripheral neuropathy @@ -415506,11 +415639,15 @@ is_a: MONDO:0019744 {source="Orphanet:544628"} ! rare renal tubular disease id: MONDO:0034121 name: NAD(P)HX dehydratase deficiency subset: ordo_disease +synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2; PEBEL2" RELATED [OMIM:618321] +xref: Orphanet:555402 {source="OMIM:618321"} xref: OMIM:618321 {source="Orphanet:555402", source="MONDO:equivalentTo"} xref: Orphanet:555402 {source="MONDO:equivalentTo"} +xref: UMLS:C5193026 {source="OMIM:618321"} is_a: MONDO:0019058 {source="Orphanet:555402"} ! neurometabolic disease is_a: MONDO:0019602 {source="Orphanet:555402"} ! other inborn metabolic disease is_a: MONDO:0024237 {source="Orphanet:555402"} ! inherited neurodegenerative disorder +is_a: MONDO:0014960 {source="OMIM:618321"} ! encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy relationship: disease_has_basis_in_disruption_of GO:0047453 ! ATP-dependent NAD(P)H-hydrate dehydratase activity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25576 {source="Orphanet:555402"} ! NAXD relationship: has_modifier HP:0000007 {source="Orphanet:555402"} ! Autosomal recessive inheritance @@ -428349,11 +428486,29 @@ id: MONDO:0060720 name: congenital disorder of glycosylation with defective fucosylation synonym: "CDGF" RELATED [OMIM:618005] synonym: "congenital disorder of glycosylation with defective fucosylation; CDGF" RELATED [OMIM:618005] -xref: OMIM:618005 {source="MONDO:equivalentTo"} +xref: OMIMPS:618005 {source="MONDO:equivalentTo"} ! congenital disorder of glycosylation with defective fucosylation xref: UMLS:CN248517 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! inherited genetic disease is_a: MONDO:0015286 ! congenital disorder of glycosylation +[Term] +id: MONDO:0020775 +name: congenital disorder of glycosylation with defective fucosylation 1 +synonym: "Cdgf" RELATED [OMIM:618005] +synonym: "CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1; CDGF1" RELATED [OMIM:618005] +xref: UMLS:C4693905 {source="OMIM:618005"} +is_a: MONDO:0060720 {source="OMIM:618005"} ! congenital disorder of glycosylation with defective fucosylation +is_a: MONDO:0000001 {source="OMIM:618005"} ! disease or disorder +xref: OMIM:618005 {source="MONDO:equivalentTo"} ! congenital disorder of glycosylation with defective fucosylation 1 + +[Term] +id: MONDO:0020777 +name: congenital disorder of glycosylation with defective fucosylation 2 +synonym: "CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2; CDGF2" RELATED [OMIM:618324] +xref: UMLS:C5193028 {source="OMIM:618324"} +is_a: MONDO:0060720 {source="OMIM:618324"} ! congenital disorder of glycosylation with defective fucosylation +is_a: MONDO:0000001 {source="OMIM:618324"} ! disease or disorder +xref: OMIM:618324 {source="MONDO:equivalentTo"} ! congenital disorder of glycosylation with defective fucosylation 2 + [Term] id: MONDO:0060722 name: obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities From 99c54d89da9b8d3fccb95668b8d7619e7e3f4b3c Mon Sep 17 00:00:00 2001 From: cmungall Date: Tue, 28 Apr 2020 20:02:25 -0700 Subject: [PATCH 07/13] finished ps --- src/ontology/mondo-edit.obo | 42 +++++++++++++++++++++++++++++++++---- 1 file changed, 38 insertions(+), 4 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 93f21018f8..cdc9ac2816 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -290577,17 +290577,35 @@ property_value: confidence "0.888162672476398" xsd:double [Term] id: MONDO:0014631 -name: hypomagnesemia, seizures, and mental retardation +name: hypomagnesemia, seizures, and intellectual disability synonym: "HOMGSMR" RELATED [MONDO:Lexical, OMIM:616418] synonym: "hypomagnesemia, seizures, and mental retardation" EXACT [MONDO:Lexical, OMIM:616418] synonym: "hypomagnesemia, seizures, and mental retardation; HOMGSMR" RELATED [OMIM:616418] -xref: OMIM:616418 {source="MONDO:equivalentTo"} +xref: OMIMPS:616418 {source="MONDO:equivalentTo"} xref: Orphanet:34527 {source="MONDO:subClassOf", source="OMIM:616418"} xref: UMLS:C4225333 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018101 {source="ORDO:34527/btnt"} ! familial primary hypomagnesemia with normocalciuria and normocalcemia -relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/103 {source="mim2gene_medgen"} ! CNNM2 property_value: confidence "5.000000000000001" xsd:double +[Term] +id: MONDO:0020787 +name: hypomagnesemia, seizures, and intellectual disability 1 +synonym: "HOMGSMR1" RELATED [OMIM:616418] +synonym: "HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1; HOMGSMR1" RELATED [OMIM:616418] +xref: UMLS:C4225333 {source="OMIM:616418"} +xref: Orphanet:34527 {source="OMIM:616418"} +is_a: MONDO:0014631 {source="OMIM:616418"} ! hypomagnesemia, seizures, and mental retardation +relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/103 {source="mim2gene_medgen"} ! CNNM2 +xref: OMIM:616418 {source="MONDO:equivalentTo"} ! hypomagnesemia, seizures, and mental retardation 1 + +[Term] +id: MONDO:0020788 +name: hypomagnesemia, seizures, and intellectual disability 2 +synonym: "HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2; HOMGSMR2" RELATED [OMIM:618314] +xref: UMLS:C5193023 {source="OMIM:618314"} +is_a: MONDO:0014631 {source="OMIM:618314"} ! hypomagnesemia, seizures, and mental retardation +xref: OMIM:618314 {source="MONDO:equivalentTo"} ! hypomagnesemia, seizures, and mental retardation 2 + [Term] id: MONDO:0014632 name: hypomyelinating leukodystrophy 10 @@ -422580,10 +422598,26 @@ def: "In a review of various classification schemes for sleep disorders, {2:Thor comment: Obsoleted as it represents a trait or is a legacy entry synonym: "short sleep phenotype" RELATED [OMIM:612975] synonym: "short sleeper" RELATED [OMIM:612975] -xref: OMIM:612975 {source="MONDO:obsoleteEquivalent"} +xref: OMIMPS:612975 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0751509 {source="OMIM:612975", source="MONDO:notFoundInDiseaseSubset"} is_obsolete: true +[Term] +id: MONDO:0020784 +name: obsolete short sleep, familial natural, 1 +synonym: "Short Sleep Phenotype" RELATED [OMIM:612975] +synonym: "SHORT SLEEP, FAMILIAL NATURAL, 1; FNSS1" RELATED [OMIM:612975] +is_obsolete: true +xref: UMLS:C0751509 {source="OMIM:612975"} +xref: OMIM:612975 {source="MONDO:obsoleteEquivalent"} ! short sleep, familial natural, 1 + +[Term] +id: MONDO:0020786 +name: obsolete short sleep, familial natural, 2 +synonym: "SHORT SLEEP, FAMILIAL NATURAL, 2; FNSS2" RELATED [OMIM:618591] +is_obsolete: true +xref: OMIM:618591 {source="MONDO:obsoleteEquivalent"} ! short sleep, familial natural, 2 + [Term] id: MONDO:0044279 name: obsolete bone mineral density quantitative trait locus 15 From 519cab5d5a0bd8db98b57178e64dee7d0843b003 Mon Sep 17 00:00:00 2001 From: cmungall Date: Tue, 28 Apr 2020 20:05:30 -0700 Subject: [PATCH 08/13] norm --- src/ontology/mondo-edit.obo | 824 ++++++++++++++++++------------------ 1 file changed, 401 insertions(+), 423 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index cdc9ac2816..9866350c00 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -8037,6 +8037,7 @@ replaced_by: MONDO:0009351 id: MONDO:0000700 name: familial hemiplegic migraine def: "A migraine disorder characterized by individual and family history of aura that includes motor weakness." [NCIT:C117009] +synonym: "FHM" EXACT [OMIM:141500] synonym: "hemiplegic migraine, familial" RELATED [GARD:0010975] synonym: "hemiplegic-ophthalmoplegic migraine" RELATED [MONDO:cjm] synonym: "hereditary hemiplegic migraine" EXACT [MONDO:patterns/hereditary] @@ -8050,6 +8051,7 @@ xref: OMIM:300125 {source="DOID:0060178", source="MONDO:superClassOf"} xref: OMIM:602481 {source="DOID:0060178", source="MONDO:relatedTo", source="MONDO:superClassOf"} xref: OMIM:607516 {source="DOID:0060178", source="MONDO:superClassOf"} xref: OMIM:609634 {source="DOID:0060178", source="MONDO:relatedTo", source="MONDO:superClassOf"} +xref: OMIMPS:141500 {source="MONDO:equivalentTo"} xref: Orphanet:569 {source="DOID:0060178", source="MONDO:relatedTo", source="MONDO:superClassOf"} xref: SCTID:193037008 {source="DOID:0060178"} xref: SCTID:193040008 {source="DOID:0060178"} @@ -8059,12 +8061,11 @@ xref: UMLS:C0338484 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C11700 xref: UMLS:C0477373 {source="DOID:0060178", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005277 {source="DOID:0060178/inferred", source="NCIT:C117009"} ! migraine disorder is_a: MONDO:0005475 {source="DOID:0060178", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! migraine with aura +is_a: MONDO:0018925 {source="MONDO:cjm"} ! familial or sporadic hemiplegic migraine is_a: MONDO:0023310 {source="MONDO:Redundant", source="MONDO:cjm", source="linkedlifedata"} ! hemiplegic migraine -is_a: MONDO:0018925 {source="MONDO:cjm"} -xref: OMIMPS:141500 {source="MONDO:equivalentTo"} ! migraine, familial hemiplegic -synonym: "FHM" EXACT [OMIM:141500] intersection_of: MONDO:0023310 ! hemiplegic migraine intersection_of: has_modifier MONDO:0021152 ! inherited +disjoint_from: MONDO:0020757 ! sporadic hemiplegic migraine relationship: disease_has_feature HP:0001269 ! Hemiparesis relationship: disease_has_feature HP:0001289 ! Confusion relationship: disease_has_feature HP:0001324 ! Muscle weakness @@ -29900,12 +29901,12 @@ xref: DOID:14711 {source="MONDO:equivalentTo"} xref: GARD:0002317 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537923 {source="DOID:14711"} -xref: OMIMPS:305400 {source="MONDO:equivalentTo"} ! fg syndrome xref: OMIM:300321 {source="MONDO:superClassOf", source="GARD:0002317", source="DOID:14711"} xref: OMIM:300406 {source="MONDO:superClassOf", source="GARD:0002317", source="DOID:14711"} xref: OMIM:300422 {source="MONDO:superClassOf", source="GARD:0002317", source="DOID:14711"} xref: OMIM:300581 {source="MONDO:superClassOf", source="GARD:0002317", source="DOID:14711"} xref: OMIM:305450 {source="MONDO:superClassOf", source="GARD:0002317", source="DOID:14711"} +xref: OMIMPS:305400 {source="MONDO:equivalentTo"} xref: Orphanet:323 {source="MONDO:equivalentTo", source="GARD:0002317", source="DOID:14711"} xref: SCTID:49984004 {source="MONDO:kboom-pr-0.93/0.67/1.86", source="MONDO:equivalentTo", source="DOID:14711"} xref: UMLS:C0220769 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0002317", source="DOID:14711"} @@ -89919,7 +89920,7 @@ xref: NCIT:C113482 {source="EFO:0003821", source="MONDO:otherHierarchy"} xref: NCIT:C89715 {source="EFO:0003821", source="MONDO:equivalentTo", source="DOID:6364"} xref: OMIM:157300 {source="EFO:0003821", source="MONDO:superClassOf", source="DOID:6364"} xref: OMIM:613656 {source="EFO:0003821", source="MONDO:superClassOf", source="DOID:6364"} -xref: OMIMPS:157300 {source="MONDO:equivalentTo"} ! migraine with or without aura, susceptibility to +xref: OMIMPS:157300 {source="MONDO:equivalentTo"} xref: SCTID:155046006 {source="DOID:6364"} xref: SCTID:155048007 {source="DOID:6364"} xref: SCTID:193028008 {source="EFO:0003821"} @@ -96079,14 +96080,12 @@ relationship: disease_has_feature HP:0002829 ! Arthralgia id: MONDO:0005579 name: epilepsy, idiopathic generalized def: "A chronic condition characterised by recurrent generalised seizures." [NCIT:P378] -synonym: "generalised epilepsy" EXACT [DOID:1827] -synonym: "generalized epilepsy" EXACT [NCIT:C3021] -synonym: "idiopathic generalized epilepsy" RELATED [DOID:1827] +synonym: "EIG" EXACT [MONDO:cjm] synonym: "epilepsy, idiopathic generalized" RELATED [MONDO:Lexical, OMIM:600669] synonym: "epilepsy, idiopathic generalized; EIG" RELATED [OMIM:600669] -synonym: "idiopathic generalized epilepsy" RELATED [OMIM:600669] -synonym: "EIG" EXACT [MONDO:cjm] -xref: OMIMPS:600669 {source="MONDO:equivalentTo"} ! epilepsy, idiopathic generalized +synonym: "generalised epilepsy" EXACT [DOID:1827] +synonym: "generalized epilepsy" EXACT [NCIT:C3021] +synonym: "idiopathic generalized epilepsy" RELATED [DOID:1827, OMIM:600669] xref: DOID:1827 {source="MONDO:equivalentTo", source="EFO:0005917"} xref: EFO:0005917 {source="MONDO:equivalentTo"} xref: MESH:D004829 {source="MONDO:equivalentTo", source="DOID:1827"} @@ -96104,6 +96103,7 @@ xref: OMIM:612899 {source="MONDO:superClassOf", source="EFO:0005917", source="DO xref: OMIM:613060 {source="MONDO:superClassOf", source="DOID:1827"} xref: OMIM:614847 {source="MONDO:superClassOf", source="EFO:0005917", source="DOID:1827"} xref: OMIM:616685 {source="MONDO:superClassOf", source="EFO:0005917"} +xref: OMIMPS:600669 {source="MONDO:equivalentTo"} xref: SCTID:155038005 {source="DOID:1827"} xref: SCTID:155043003 {source="DOID:1827"} xref: SCTID:192989008 {source="DOID:1827"} @@ -132018,7 +132018,6 @@ synonym: "Meesman dystrophy" RELATED [GARD:0009688] synonym: "Meesmann corneal dystrophy" EXACT [OMIM:122100] synonym: "Meesmann corneal epithelial dystrophy" RELATED [GARD:0009688] synonym: "stocker-Holt dystrophy" EXACT [DOID:0060451] -xref: OMIMPS:122100 {source="MONDO:equivalentTo"} ! corneal dystrophy, meesmann xref: DOID:0060451 {source="MONDO:equivalentTo"} xref: GARD:0009688 {source="MONDO:equivalentTo"} xref: ICD10:H18.5 {source="Orphanet:98954", source="ORDO:98954/attributed", source="ORDO:98954/ntbt"} @@ -132027,6 +132026,7 @@ xref: ICD9:371.51 {source="DOID:0060451"} xref: MESH:D053559 {source="DOID:0060451", source="ORDO:98954/e", source="Orphanet:98954", source="MONDO:equivalentTo", source="MONDO:ontobio"} xref: NCIT:C84795 {source="DOID:0060451", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"} xref: OMIM:122100 {source="DOID:0060451", source="ORDO:98954/e", source="Orphanet:98954", source="MONDO:equivalentTo"} +xref: OMIMPS:122100 {source="MONDO:equivalentTo"} xref: Orphanet:98954 {source="DOID:0060451", source="MONDO:equivalentTo", source="OMIM:122100"} xref: SCTID:1674008 {source="DOID:0060451", source="MONDO:equivalentTo"} xref: SCTID:193833008 {source="DOID:0060451"} @@ -139124,6 +139124,12 @@ xref: UMLS:C1841639 {source="OMIM:141405", source="NCBI:mim2gene_medline", sourc xref: UMLS:C3536936 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0016375 {source="Orphanet:221083"} ! acquired peripheral movement disorder +[Term] +id: MONDO:0007714 +name: obsolete migraine, familial hemiplegic, 1 +is_obsolete: true +consider: MONDO:0000700 +consider: MONDO:0020756 [Term] id: MONDO:0007715 @@ -144687,52 +144693,36 @@ id: MONDO:0007960 name: megacystis-microcolon-intestinal hypoperistalsis syndrome def: "Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis." [Orphanet:2241] subset: ordo_malformation_syndrome {source="Orphanet:2241"} -synonym: "Berdon syndrome" RELATED [DOID:0060610, OMIM:155310, Orphanet:2241] +synonym: "Berdon syndrome" RELATED [DOID:0060610, OMIM:155310, OMIM:249210, Orphanet:2241] synonym: "megacystis microcolon intestinal hypoperistalsis syndrome" RELATED [GARD:0003442] synonym: "megacystis, microcolon, hypoperistalsis syndrome" EXACT [NCIT:C98982] synonym: "megacystis, microcolon, intestinal hypoperistalsis syndrome" EXACT [NCIT:C98982] synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH" EXACT [DOID:0060610] +synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS" RELATED [OMIM:249210] synonym: "megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome" EXACT [Orphanet:2241] synonym: "MMIH syndrome" EXACT [NCIT:C98982] synonym: "MMIHS" EXACT [Orphanet:2241] synonym: "visceral myopathy" RELATED EXCLUDE [DOID:0060610] -synonym: "Berdon syndrome" RELATED [OMIM:249210] -synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS" RELATED [OMIM:249210] -xref: Orphanet:2241 {source="OMIM:249210"} -is_a: MONDO:0000001 {source="OMIM:249210"} ! disease or disorder -xref: OMIM:249210 {source="MONDO:equivalentTo"} ! megacystis-microcolon-intestinal hypoperistalsis syndrome xref: DOID:0060610 {source="MONDO:equivalentTo"} xref: GARD:0003442 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:Q43.8 {source="DOID:0060610", source="ORDO:2241/attributed", source="ORDO:2241/ntbt", source="Orphanet:2241"} xref: MESH:C536138 {source="MONDO:equivalentTo", source="DOID:0060610"} xref: NCIT:C98982 {source="MONDO:kboom-pr-0.75/0.37/0.62", source="MONDO:equivalentTo"} xref: OMIM:155310 {source="DOID:0060610"} -xref: OMIM:249210 {source="Orphanet:2241", source="ORDO:2241/e"} -xref: Orphanet:2241 {source="MONDO:equivalentTo", source="DOID:0060610"} +xref: OMIM:249210 {source="MONDO:equivalentTo", source="Orphanet:2241", source="ORDO:2241/e"} +xref: Orphanet:2241 {source="OMIM:249210", source="MONDO:equivalentTo", source="DOID:0060610"} xref: Orphanet:2604 {source="MONDO:superClassOf", source="OMIM:155310"} xref: SCTID:253781004 {source="MONDO:equivalentTo"} xref: UMLS:C0266833 {source="MONDO:superClassOf", source="OMIM:155310"} xref: UMLS:C1608393 {source="MONDO:equivalentTo", source="DOID:0060610", source="NCIT:C98982", source="Orphanet:2241", source="ORDO:2241/e"} xref: UMLS:C1835084 {source="NCBI:mim2gene_medline", source="MONDO:superClassOf", source="OMIM:155310"} xref: UMLS:C1864996 {source="MONDO:relatedTo", source="OMIM:155310"} +is_a: MONDO:0000001 {source="OMIM:249210"} ! disease or disorder is_a: MONDO:0002254 {source="DOID:0060610", source="MONDO:Redundant", source="NCIT:C98982", source="indirect"} ! syndromic disease is_a: MONDO:0019721 {source="Orphanet:2241"} ! syndromic renal or urinary tract malformation is_a: MONDO:0021189 {source="Orphanet:2241"} ! intestinal motility disease relationship: has_modifier MONDO:0021136 {source="MONDO:0015184"} ! rare -[Term] -id: MONDO:0020754 -name: visceral myopathy -synonym: "infantile visceral myopathy" RELATED [OMIM:155310] -synonym: "megaduodenum and/or megacystis" RELATED [OMIM:155310] -synonym: "pseudoobstruction, idiopathic intestinal" RELATED [OMIM:155310] -synonym: "visceral myopathy; VSCM" RELATED [OMIM:155310] -xref: UMLS:C0042781 {source="OMIM:155310"} -xref: UMLS:C1608393 {source="OMIM:155310"} -xref: Orphanet:2604 {source="OMIM:155310"} -is_a: MONDO:0000001 {source="OMIM:155310"} ! disease or disorder -xref: OMIM:155310 {source="MONDO:equivalentTo"} ! visceral myopathy - [Term] id: MONDO:0007961 name: megalencephaly, autosomal dominant @@ -164627,7 +164617,6 @@ synonym: "plant sterol storage disease" RELATED [GARD:0007653] synonym: "retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body" RELATED [GARD:0007653] synonym: "sitosterolemia" EXACT [OMIM:210250] synonym: "STSL" RELATED [OMIM:210250] -xref: OMIMPS:210250 {source="MONDO:equivalentTo"} ! sitosterolemia xref: DOID:0090019 {source="MONDO:equivalentTo"} xref: GARD:0007653 {source="MONDO:equivalentTo"} xref: ICD10:E78.0 {source="Orphanet:2882", source="ORDO:2882/attributed", source="ORDO:2882/ntbt", source="DOID:0090019"} @@ -164635,6 +164624,7 @@ xref: MedDRA:10063985 {source="ORDO:2882/e", source="Orphanet:2882"} xref: MESH:C537345 {source="ORDO:2882/e", source="Orphanet:2882", source="MONDO:equivalentTo", source="MONDO:ontobio", source="DOID:0090019"} xref: NCIT:C125694 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"} xref: OMIM:210250 {source="MONDO:subClassOf", source="ORDO:2882/e", source="Orphanet:2882", source="DOID:0090019"} +xref: OMIMPS:210250 {source="MONDO:equivalentTo"} xref: OMIMPS:215250 {source="MONDO:equivalentTo"} xref: Orphanet:101022 {source="OMIM:210250", source="MONDO:equivalentObsolete"} xref: Orphanet:2882 {source="OMIM:210250", source="MONDO:equivalentTo", source="DOID:0090019"} @@ -171842,7 +171832,7 @@ xref: MESH:D004819 {source="Orphanet:302", source="DOID:13777", source="MONDO:eq xref: NCIT:C126877 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.86/15.87"} xref: OMIM:226400 {source="Orphanet:302", source="DOID:13777", source="MONDO:equivalentTo", source="ORDO:302/e"} xref: OMIM:305350 {source="Orphanet:302", source="MONDO:superClassOf", source="ORDO:302/btnt"} -xref: OMIMPS:226400 {source="MONDO:equivalentTo"} ! epidermodysplasia verruciformis, susceptibility to +xref: OMIMPS:226400 {source="MONDO:equivalentTo"} xref: Orphanet:302 {source="OMIM:226400", source="MONDO:equivalentTo"} xref: SCTID:19138001 {source="DOID:13777", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"} xref: UMLS:C0014522 {source="Orphanet:302", source="DOID:13777", source="OMIM:226400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C126877", source="ORDO:302/e"} @@ -182676,17 +182666,11 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18 relationship: disease_has_feature MONDO:0019118 {source="modified-Orphanet:2518"} ! inherited retinal dystrophy property_value: confidence "2.25" xsd:double -[Term] -id: MONDO:0033211 -name: diencephalic-mesencephalic junction dysplasia syndrome -is_a: MONDO:0003847 ! inherited genetic disease -xref: OMIMPS:251280 {source="MONDO:equivalentTo"} ! diencephalic-mesencephalic junction dysplasia syndrome - [Term] id: MONDO:0009625 name: diencephalic-mesencephalic junction dysplasia syndrome 1 subset: gard_rare {source="GARD:0008510"} -synonym: "DMJDS1" EXACT [OMIM:251280] +synonym: "DMJDS1" EXACT [OMIM:251280] synonym: "microcephaly with spastic quadriplegia" EXACT [OMIM:251280] synonym: "microcephaly, seizures, spasticity, and brain calcifications" RELATED [OMIM:251280] synonym: "microcephaly, seizures, spasticity, and brain calcifications; MISSBC" RELATED [OMIM:251280] @@ -182699,14 +182683,6 @@ xref: UMLS:C1855055 {source="OMIM:251280", source="NCBI:mim2gene_medline", sourc is_a: MONDO:0033211 {source="OMIM:251280"} ! diencephalic-mesencephalic junction dysplasia syndrome property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8510/microcephaly-with-spastic-quadriplegia xsd:anyURI {source="GARD:0008510"} -[Term] -id: MONDO:0020762 -name: diencephalic-mesencephalic junction dysplasia syndrome 2 -synonym: "DMJDS2" EXACT [OMIM:618646] -synonym: "spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia" RELATED [OMIM:618646] -is_a: MONDO:0033211 {source="OMIM:618646"} ! diencephalic-mesencephalic junction dysplasia syndrome -xref: OMIM:618646 {source="MONDO:equivalentTo"} ! diencephalic-mesencephalic junction dysplasia syndrome 2 - [Term] id: MONDO:0009626 name: pseudo-TORCH syndrome @@ -183032,12 +183008,12 @@ synonym: "mitochondrial NADH dehydrogenase component of Complex I, deficiency of synonym: "NADH coenzyme Q reductase deficiency" RELATED [GARD:0003908] synonym: "NADH-coenzyme Q reductase deficiency" RELATED [OMIM:252010] synonym: "NADH:Q(1) oxidoreductase deficiency" RELATED [OMIM:252010] -xref: OMIMPS:252010 {source="MONDO:equivalentTo"} ! mitochondrial complex i deficiency, nuclear type xref: DOID:0060536 {source="MONDO:equivalentTo"} xref: GARD:0003908 {source="MONDO:equivalentTo"} xref: ICD10:G71.3 {source="ORDO:2609/attributed", source="ORDO:2609/ntbt", source="Orphanet:2609"} xref: MESH:C537475 {source="MONDO:equivalentTo", source="DOID:0060536", source="MONDO:ontobio"} xref: OMIM:252010 {source="MONDO:equivalentTo", source="DOID:0060536", source="Orphanet:2609", source="ORDO:2609/e"} +xref: OMIMPS:252010 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="MONDO:equivalentTo", source="OMIM:252010", source="DOID:0060536"} xref: UMLS:C1838979 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:252010"} xref: UMLS:C2936907 {source="MONDO:equivalentTo", source="OMIM:252010", source="DOID:0060536", source="MEDGEN:kboom-pr92-c96", source="Orphanet:2609", source="ORDO:2609/e"} @@ -183052,14 +183028,6 @@ intersection_of: disease_has_basis_in_dysfunction_of GO:0005747 ! mitochondrial property_value: confidence "21.666666666666732" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3908/mitochondrial-complex-i-deficiency xsd:anyURI {source="GARD:0003908"} -[Term] -id: MONDO:0027068 -name: mitochondrial complex 1 deficiency, mitochondrial type 1 -synonym: "mitochondrial complex i deficiency, mitochondrial type 1; MC1DM1" RELATED [OMIM:500014] -xref: UMLS:C4746992 {source="OMIM:500014"} -is_a: MONDO:0000001 {source="OMIM:500014"} ! disease or disorder -xref: OMIM:500014 {source="MONDO:equivalentTo"} ! mitochondrial complex 1 deficiency, mitochondrial type 1 - [Term] id: MONDO:0009641 name: mitochondrial complex II deficiency @@ -199319,19 +199287,17 @@ synonym: "anhidrotic ectodermal dysplasia with immune deficiency" EXACT [NCIT:C1 synonym: "anhidrotic ectodermal dysplasia with immunodeficiency" EXACT [Orphanet:98813] synonym: "ectodermal dysplasia, anhidrotic, with immune deficiency" RELATED [OMIM:300291] synonym: "ectodermal dysplasia, hypohidrotic, with immune deficiency" RELATED [OMIM:300291] -synonym: "EDA-ID" EXACT [Orphanet:98813] -synonym: "EDA-ID" EXACT [OMIM:300291] -synonym: "HED-ID" EXACT [Orphanet:98813] -synonym: "HED-ID" EXACT [OMIM:300291] +synonym: "EDA-ID" EXACT [OMIM:300291, Orphanet:98813] +synonym: "HED-ID" EXACT [OMIM:300291, Orphanet:98813] synonym: "hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia" RELATED [OMIM:300291] synonym: "hypohidrotic ectodermal dysplasia with immune deficiency" EXACT [NCIT:C118844] synonym: "Xhm-Ed" RELATED [OMIM:300291] xref: GARD:0009936 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: ICD10:D82.8 {source="ORDO:98813/attributed", source="ORDO:98813/ntbt", source="Orphanet:98813"} xref: NCIT:C118844 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"} -xref: OMIMPS:300291 {source="MONDO:equivalentTo"} ! ectodermal dysplasia and immune deficiency xref: OMIM:300291 {source="ORDO:98813/e", source="Orphanet:98813", source="MONDO:superClassOf"} xref: OMIM:612132 {source="ORDO:98813/btnt", source="Orphanet:98813", source="MONDO:superClassOf"} +xref: OMIMPS:300291 {source="MONDO:equivalentTo"} xref: Orphanet:238468 {source="MONDO:subClassOf", source="OMIM:300291"} xref: Orphanet:98813 {source="MONDO:equivalentTo", source="OMIM:300291"} xref: SCTID:703525006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.74/0.37/0.54"} @@ -201825,32 +201791,28 @@ id: MONDO:0010407 name: syndromic X-linked intellectual disability Turner type def: "X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant." [Orphanet:85328] subset: ordo_malformation_syndrome {source="Orphanet:85328"} +synonym: "Brooks-Wisniewski-Brown Syndrome" RELATED [OMIM:309590] +synonym: "Juberg-Marsidi Syndrome" RELATED [OMIM:309590] synonym: "mental retardation and macrocephaly syndrome" EXACT [DOID:0060811, OMIM:300706] +synonym: "mental retardation and macrocephaly syndrome" RELATED [OMIM:309590] synonym: "mental retardation, X-linked syndromic, Turner type" EXACT [DOID:0060811] +synonym: "mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Type" RELATED [OMIM:309590] synonym: "mental retardation, X-linked, syndromic, Turner type" RELATED [MONDO:Lexical, OMIM:300706] -synonym: "mental retardation, X-linked, syndromic, Turner type; MRXST" RELATED [OMIM:300706] +synonym: "mental retardation, X-linked, syndromic, Turner type; MRXST" RELATED [OMIM:300706, OMIM:309590] +synonym: "mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism" RELATED [OMIM:309590] synonym: "MRXST" EXACT [DOID:0060811, MONDO:Lexical, OMIM:300706] synonym: "X-linked intellectual disability, Turner type" RELATED [Orphanet:85328] -synonym: "Brooks-Wisniewski-Brown Syndrome" RELATED [OMIM:309590] -synonym: "Juberg-Marsidi Syndrome" RELATED [OMIM:309590] -synonym: "mental retardation and macrocephaly syndrome" RELATED [OMIM:309590] -synonym: "mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Type" RELATED [OMIM:309590] -synonym: "mental retardation, X-linked, syndromic, Turner type; MRXST" RELATED [OMIM:309590] -synonym: "mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism" RELATED [OMIM:309590] -xref: UMLS:C0796003 {source="OMIM:309590"} -xref: UMLS:C0796272 {source="OMIM:309590"} -xref: UMLS:C2678046 {source="OMIM:309590"} -xref: Orphanet:85328 {source="OMIM:309590"} -is_a: MONDO:0020119 {source="OMIM:309590"} ! X-linked syndromic intellectual disability -is_a: MONDO:0000001 {source="OMIM:309590"} ! disease or disorder -xref: OMIM:309590 {source="MONDO:equivalentTo"} ! mental retardation, x-linked, syndromic, turner type xref: DOID:0060811 {source="MONDO:equivalentTo"} xref: ICD10:Q87.8 {source="ORDO:85328/attributed", source="ORDO:85328/ntbt", source="DOID:0060811", source="Orphanet:85328"} xref: MESH:C567476 {source="MONDO:equivalentTo", source="MONDO:ontobio"} -xref: OMIM:300706 {source="ORDO:85328/e", source="MONDO:equivalentObsolete", source="DOID:0060811", source="Orphanet:85328"} -xref: Orphanet:85328 {source="OMIM:300706", source="MONDO:equivalentTo", source="DOID:0060811"} -xref: UMLS:C2678046 {source="OMIM:300706", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:85328"} -is_a: MONDO:0020119 {source="DC-OMIM:300706", source="DOID:0060811", source="OMIM:300706", source="Orphanet:85328"} ! X-linked syndromic intellectual disability +xref: OMIM:300706 {source="MONDO:equivalentObsolete", source="ORDO:85328/e", source="DOID:0060811", source="Orphanet:85328"} +xref: OMIM:309590 {source="MONDO:equivalentTo"} +xref: Orphanet:85328 {source="OMIM:300706", source="MONDO:equivalentTo", source="OMIM:309590", source="DOID:0060811"} +xref: UMLS:C0796003 {source="OMIM:309590"} +xref: UMLS:C0796272 {source="OMIM:309590"} +xref: UMLS:C2678046 {source="OMIM:300706", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:309590", source="Orphanet:85328"} +is_a: MONDO:0000001 {source="OMIM:309590"} ! disease or disorder +is_a: MONDO:0020119 {source="DC-OMIM:300706", source="DOID:0060811", source="OMIM:300706", source="OMIM:309590", source="Orphanet:85328"} ! X-linked syndromic intellectual disability relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30892 {source="mim2gene_medgen"} ! HUWE1 property_value: confidence "1.9999999999999996" xsd:double @@ -207394,28 +207356,6 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/37 property_value: confidence "8.375" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7011/melnick-needles-syndrome xsd:anyURI {source="GARD:0007011"} -[Term] -id: MONDO:0020774 -name: Menke-Hennekam syndrome -xref: OMIMPS:618332 {source="MONDO:equivalentTo"} ! Menke-Hennekam syndrome -is_a: MONDO:0003847 ! inherited genetic disease - -[Term] -id: MONDO:0020763 -name: Menke-Hennekam syndrome 1 -synonym: "Menke-Hennekam syndrome 1; MKHK1" RELATED [OMIM:618332] -xref: UMLS:C5193034 {source="OMIM:618332"} -is_a: MONDO:0020774 {source="OMIM:618332"} ! Menke-Hennekam syndrome -xref: OMIM:618332 {source="MONDO:equivalentTo"} ! Menke-Hennekam syndrome 1 - -[Term] -id: MONDO:0020769 -name: Menke-Hennekam syndrome 2 -synonym: "Menke-Hennekam syndrome 2; MKHK2" RELATED [OMIM:618333] -xref: UMLS:C5193035 {source="OMIM:618333"} -is_a: MONDO:0020774 {source="OMIM:618333"} ! Menke-Hennekam syndrome -xref: OMIM:618333 {source="MONDO:equivalentTo"} ! Menke-Hennekam syndrome 2 - [Term] id: MONDO:0010651 name: Menkes disease @@ -208603,9 +208543,8 @@ synonym: "orofaciodigital syndrome I" EXACT [MONDO:Lexical, OMIM:311200] synonym: "orofaciodigital syndrome I; OFD1" EXACT [OMIM:311200] synonym: "orofaciodigital syndrome type 1" EXACT [MONDORULE:1, OMIM:311200] synonym: "orofaciodigital syndrome type I" EXACT [DOID:0060316, MONDORULE:1] -synonym: "Papillon-Leage-Psaume syndrome" EXACT [Orphanet:2750] synonym: "Papillon-Leage and Psaume syndrome" EXACT [OMIM:311200] -synonym: "Papillon-Leage-Psaume syndrome" EXACT [DOID:0060316] +synonym: "Papillon-Leage-Psaume syndrome" EXACT [DOID:0060316, Orphanet:2750] synonym: "Papillon-league-Psaume syndrome (formerly)" EXACT [GARD:0004121] synonym: "Papillon-Léage-Psaume syndrome" EXACT [Orphanet:2750] xref: DOID:0060316 {source="MONDO:equivalentTo"} @@ -209985,14 +209924,6 @@ is_a: MONDO:0010595 {source="MONDOLEX:0010763"} ! Sertoli cell-only syndrome is_a: MONDO:0015607 {source="ORDO:1646/btnt"} ! partial chromosome Y deletion property_value: confidence "0.18928571428571428" xsd:double -[Term] -id: MONDO:0033304 -name: nonsyndromic deafness, Y-linked -xref: OMIMPS:400043 {source="MONDO:equivalentTo"} ! deafness, y-linked -is_a: MONDO:0003847 ! inherited genetic disease -intersection_of: MONDO:0019497 ! nonsyndromic genetic deafness -intersection_of: has_modifier HP:0001450 ! Y-linked inheritance - [Term] id: MONDO:0010764 name: deafness, Y-linked 1 @@ -210002,19 +209933,10 @@ synonym: "DFNY1" EXACT [MONDO:Lexical, OMIM:400043] xref: OMIM:400043 {source="MONDO:equivalentTo"} xref: UMLS:C1824927 {source="OMIM:400043", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3888076 {source="MONDO:equivalentTo"} -is_a: MONDO:0033304 is_a: MONDO:0019497 ! nonsyndromic genetic deafness +is_a: MONDO:0033304 ! nonsyndromic deafness, Y-linked relationship: has_modifier HP:0001450 ! Y-linked inheritance -[Term] -id: MONDO:0027048 -name: deafness, Y-linked 2 -synonym: "DFNY2" EXACT [OMIM:400047] -xref: UMLS:C5193013 {source="OMIM:400047"} -is_a: MONDO:0033304 -is_a: MONDO:0000001 {source="OMIM:400047"} ! disease or disorder -xref: OMIM:400047 {source="MONDO:equivalentTo"} ! deafness, y-linked 2 - [Term] id: MONDO:0010765 name: 46,XY complete gonadal dysgenesis @@ -211401,12 +211323,12 @@ xref: ICD10:G40.A {source="DOID:1825"} xref: MESH:D004832 {source="DOID:1825"} xref: NCIT:C3023 {source="DOID:1825"} xref: NCIT:C50436 {source="MONDO:otherHierarchy", source="DOID:1825"} -xref: OMIMPS:600131 {source="MONDO:equivalentTo"} ! epilepsy, childhood absence xref: OMIM:600131 {source="ORDO:64280/e", source="MONDO:superClassOf", source="Orphanet:64280"} xref: OMIM:607681 {source="MONDO:superClassOf", source="ORDO:64280/btnt", source="Orphanet:64280"} xref: OMIM:611136 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:64280/ntbt", source="Orphanet:64280"} xref: OMIM:611942 {source="MONDO:superClassOf", source="ORDO:64280/btnt", source="Orphanet:64280"} xref: OMIM:612269 {source="MONDO:superClassOf", source="ORDO:64280/btnt", source="Orphanet:64280"} +xref: OMIMPS:600131 {source="MONDO:equivalentTo"} xref: Orphanet:64280 {source="OMIM:600131", source="MONDO:equivalentTo"} xref: SCTID:140805008 {source="DOID:1825"} xref: SCTID:155037000 {source="DOID:1825"} @@ -211424,17 +211346,6 @@ is_a: MONDO:0000414 {source="DOID:1825"} ! childhood electroclinical syndrome is_a: MONDO:0020072 {source="Orphanet:64280/inferred", source="http://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome relationship: disease_has_feature HP:0002121 ! Absence seizures -[Term] -id: MONDO:0020759 -name: epilepsy, childhood absence, susceptibility to, 1 -synonym: "epilepsy, childhood absence, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:600131] -synonym: "epilepsy, childhood absence, susceptibility to, 1; ECA1" RELATED [OMIM:600131] -synonym: "ECA1" EXACT [OMIM:600131] -xref: UMLS:C1838604 {source="OMIM:600131"} -xref: Orphanet:64280 {source="OMIM:600131"} -is_a: MONDO:0010826 {source="OMIM:600131"} ! childhood absence epilepsy -xref: OMIM:600131 {source="MONDO:equivalentTo"} ! epilepsy, childhood absence, susceptibility to, 1 - [Term] id: MONDO:0010827 name: retinitis pigmentosa 14 @@ -213364,7 +213275,7 @@ xref: SCTID:36803009 {source="MONDO:kboom-pr-1.00/0.79/7.87", source="MONDO:equi xref: UMLS:C0270850 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:600669"} xref: UMLS:C2748799 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:600669"} xref: UMLS:C2748800 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:600669"} -is_a: MONDO:0005579 {source="DC-OMIM:600669", source="MESH:C562694", source="linkedlifedata"} ! generalised epilepsy +is_a: MONDO:0005579 {source="DC-OMIM:600669", source="MESH:C562694", source="linkedlifedata"} ! epilepsy, idiopathic generalized [Term] id: MONDO:0010919 @@ -225614,7 +225525,7 @@ xref: OMIM:604827 {source="MONDO:equivalentTo"} xref: Orphanet:307 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="OMIM:604827"} xref: UMLS:C1414366 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:604827"} xref: UMLS:C2751729 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:604827"} -is_a: MONDO:0005579 {source="DC-OMIM:604827"} ! generalised epilepsy +is_a: MONDO:0005579 {source="DC-OMIM:604827"} ! epilepsy, idiopathic generalized [Term] id: MONDO:0011492 @@ -226250,33 +226161,6 @@ name: obsolete Sebastian syndrome is_obsolete: true replaced_by: MONDO:0007954 -[Term] -id: MONDO:0033352 -name: neuropathy, congenital hypomelinating -synonym: "CHN" EXACT [MONDO:cjm] -xref: OMIMPS:605253 {source="MONDO:equivalentTo"} ! neuropathy, congenital hypomelinating -is_a: MONDO:0020127 {source="MONDO:cjm"} ! genetic peripheral neuropathy - -[Term] -id: MONDO:0020765 -name: neuropathy, congenital hypomyelinating, 2 -synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING, 2; CHN2" RELATED [OMIM:618184] -synonym: "CHN2" RELATED [OMIM:618184] -xref: UMLS:C4722277 {source="OMIM:618184"} -xref: Orphanet:64748 {source="OMIM:618184"} -is_a: MONDO:0033352 {source="OMIM:618184"} ! neuropathy, congenital hypomelinating -xref: OMIM:618184 {source="MONDO:equivalentTo"} ! neuropathy, congenital hypomyelinating, 2 - -[Term] -id: MONDO:0020766 -name: neuropathy, congenital hypomyelinating, 3 -synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING, 3; CHN3" RELATED [OMIM:618186] -synonym: "CHN3" RELATED [OMIM:618186] -xref: UMLS:C4748608 {source="OMIM:618186"} -xref: Orphanet:2680 {source="OMIM:618186"} -is_a: MONDO:0033352 {source="OMIM:618186"} ! neuropathy, congenital hypomelinating -xref: OMIM:618186 {source="MONDO:equivalentTo"} ! neuropathy, congenital hypomyelinating, 3 - [Term] id: MONDO:0011527 name: Charcot-Marie-Tooth disease type 4E @@ -226284,7 +226168,6 @@ def: "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinati comment: Not part of the OMIM series 118220 but maybe it should be? Alternate titles CHARCOT-MARIE-Tooth DISEASE, TYPE 4E; CMT4E and CHARCOT-MARIE-Tooth NEUROPATHY, TYPE 4E. {source="OMIM:605253"} subset: gard_rare subset: ordo_disease {source="Orphanet:99951"} -synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE; CHN1" RELATED [OMIM:605253] synonym: "autosomal recessive congenital hypomyelinating neuropathy" EXACT [GARD:0006170, Orphanet:99951] synonym: "autosomal recessive congenital hypomyelinating or amyelinating neuropathy" EXACT [DOID:0110195] synonym: "Charcot Marie Tooth disease type 4E" RELATED [GARD:0009203] @@ -226302,6 +226185,7 @@ synonym: "neuropathy, congenital hypomyelinating" RELATED [GARD:0009203] synonym: "neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive" RELATED [MONDO:Lexical, OMIM:605253] synonym: "neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive; CHN" RELATED [OMIM:605253] synonym: "neuropathy, congenital hypomyelinating, 1" EXACT [DOID:0110195] +synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE; CHN1" RELATED [OMIM:605253] synonym: "neuropathy, congenital hypomyelinating, autosomal dominant" RELATED [OMIM:605253] xref: DOID:0110195 {source="MONDO:equivalentTo"} xref: GARD:0006170 {source="MONDO:equivalentTo"} @@ -231037,7 +230921,7 @@ synonym: "epilepsy, idiopathic generalized, susceptibility to, 2; EIG2" RELATED synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 14" RELATED [OMIM:606972] xref: OMIM:606972 {source="MONDO:equivalentTo"} xref: UMLS:C1846992 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:606972"} -is_a: MONDO:0005579 {source="DC-OMIM:606972"} ! generalised epilepsy +is_a: MONDO:0005579 {source="DC-OMIM:606972"} ! epilepsy, idiopathic generalized [Term] id: MONDO:0011754 @@ -232065,22 +231949,6 @@ is_a: MONDO:0020573 {source="OMIM:607248"} ! inherited disease susceptibility relationship: predisposes_towards MONDO:0015917 ! malignant glioma property_value: confidence "0.6200000000000001" xsd:double -[Term] -id: MONDO:0020771 -name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy -synonym: "SCAN" EXACT [MONDO:cjm] -xref: OMIMPS:607250 {source="MONDO:equivalentTo"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy -is_a: MONDO:0015244 {source="MONDO:cjm"} ! autosomal recessive cerebellar ataxia - -[Term] -id: MONDO:0020770 -name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 -synonym: "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3; SCAN3" RELATED [OMIM:618387] -synonym: "SCAN3" RELATED [OMIM:618387] -xref: UMLS:C5193070 {source="OMIM:618387"} -is_a: MONDO:0020771 {source="OMIM:618387"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy -xref: OMIM:618387 {source="MONDO:equivalentTo"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 - [Term] id: MONDO:0011801 name: spinocerebellar ataxia type 1 with axonal neuropathy @@ -233674,10 +233542,10 @@ xref: UMLS:C0393697 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDis xref: UMLS:C2750893 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:607628"} xref: UMLS:C2750894 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:607628"} xref: UMLS:C2750895 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:607628"} -is_a: MONDO:0009696 {source="OMIM:607628"} ! juvenile myoclonic epilepsy is_a: MONDO:0005579 {source="OMIM:607628"} ! epilepsy, idiopathic generalized +is_a: MONDO:0009696 {source="OMIM:607628"} ! juvenile myoclonic epilepsy is_a: MONDO:0011876 {source="OMIM:607628"} ! juvenile absence epilepsy -intersection_of: MONDO:0005579 ! generalised epilepsy +intersection_of: MONDO:0005579 ! epilepsy, idiopathic generalized intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2020 ! CLCN2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2020 {source="mim2gene_medgen"} ! CLCN2 @@ -233698,8 +233566,8 @@ xref: GARD:0002162 {source="MONDO:equivalentTo", source="Orphanet-shared", sourc xref: ICD10:G40.3 {source="ORDO:1941/attributed", source="ORDO:1941/ntbt", source="Orphanet:1941"} xref: MESH:C535495 {source="Orphanet:1941", source="ORDO:1941/e"} xref: NCIT:C129868 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.93/31.20"} -xref: OMIMPS:607631 {source="MONDO:equivalentTo"} ! epilepsy, juvenile absence -xref: OMIM:607631 {source="MONDO:superClassOf", source="Orphanet:1941", source="ORDO:1941/e"} +xref: OMIM:607631 {source="Orphanet:1941", source="MONDO:superClassOf", source="ORDO:1941/e"} +xref: OMIMPS:607631 {source="MONDO:equivalentTo"} xref: Orphanet:1941 {source="MONDO:equivalentTo", source="OMIM:607631"} xref: SCTID:230413002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"} xref: UMLS:C0014553 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -233712,17 +233580,6 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16 relationship: predisposes_towards MONDO:0011876 ! juvenile absence epilepsy property_value: confidence "1.1309583424662981" xsd:double -[Term] -id: MONDO:0020772 -name: epilepsy, juvenile absence, susceptibility to, 1 -synonym: "EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1; EJA1" RELATED [OMIM:607631] -synonym: "JAE1" RELATED [OMIM:607631] -xref: UMLS:C2750892 {source="OMIM:607631"} -xref: Orphanet:1941 {source="OMIM:607631"} -is_a: MONDO:0011876 {source="OMIM:607631"} ! juvenile absence epilepsy -is_a: MONDO:0000001 {source="OMIM:607631"} ! disease or disorder -xref: OMIM:607631 {source="MONDO:equivalentTo"} ! epilepsy, juvenile absence, susceptibility to, 1 - [Term] id: MONDO:0011877 name: autosomal dominant osteopetrosis 1 @@ -234108,7 +233965,7 @@ xref: OMIM:607682 {source="MONDO:equivalentTo"} xref: Orphanet:307 {source="MONDO:subClassOf", source="MONDO:superClassOf", source="OMIM:607682"} xref: UMLS:C2750887 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:607682"} xref: UMLS:C2750888 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:607682"} -intersection_of: MONDO:0005579 ! generalised epilepsy +intersection_of: MONDO:0005579 ! epilepsy, idiopathic generalized intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1404 ! CACNB4 [Term] @@ -236886,12 +236743,12 @@ synonym: "capillary malformation-arteriovenous malformation; CMAVM" RELATED [OMI synonym: "CM-AVM" EXACT [Orphanet:137667] synonym: "CM-AVM syndrome" RELATED [GARD:0011904] synonym: "CMAVM" RELATED [MONDO:Lexical, OMIM:608354] -xref: OMIMPS:608354 {source="MONDO:equivalentTo"} ! capillary malformation-arteriovenous malformation xref: GARD:0011904 {source="MONDO:equivalentTo"} xref: ICD10:Q27.3 {source="Orphanet:137667", source="ORDO:137667/attributed", source="ORDO:137667/ntbt"} xref: ICD9:747.69 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C564254 {source="MONDO:equivalentTo", source="MONDO:ontobio"} xref: OMIM:608354 {source="ORDO:137667/e", source="Orphanet:137667", source="MONDO:superClassOf"} +xref: OMIMPS:608354 {source="MONDO:equivalentTo"} xref: Orphanet:137667 {source="MONDO:equivalentTo", source="OMIM:608354"} xref: SCTID:703533007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/29.66"} xref: UMLS:C1842180 {source="NCBI:mim2gene_medline", source="Orphanet:137667", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608354"} @@ -236900,31 +236757,6 @@ is_a: MONDO:0016229 {source="Orphanet:137667"} ! genetic vascular anomaly is_a: MONDO:0016231 {source="Orphanet:137667", source="linkedlifedata", source="linkedlifedata/inferred"} ! capillary malformation property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11904/capillary-malformation-arteriovenous-malformation-syndrome xsd:anyURI {source="GARD:0011904"} -[Term] -id: MONDO:0020783 -name: capillary malformation-arteriovenous malformation 1 -synonym: "Capillary Malformation-Arteriovenous Malformation" RELATED [OMIM:608354] -synonym: "CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM1" RELATED [OMIM:608354] -xref: UMLS:C1842180 {source="OMIM:608354"} -xref: UMLS:C4747394 {source="OMIM:608354"} -xref: Orphanet:137667 {source="OMIM:608354"} -xref: Orphanet:2346 {source="OMIM:608354"} -xref: Orphanet:90307 {source="OMIM:608354"} -is_a: MONDO:0012016 {source="OMIM:608354"} ! capillary malformation-arteriovenous malformation syndrome -is_a: MONDO:0000001 {source="OMIM:608354"} ! disease or disorder -xref: OMIM:608354 {source="MONDO:equivalentTo"} ! capillary malformation-arteriovenous malformation 1 -relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9871 {source="mim2gene_medgen"} ! RASA1 - -[Term] -id: MONDO:0020785 -name: capillary malformation-arteriovenous malformation 2 -synonym: "CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2; CMAVM2" RELATED [OMIM:618196] -xref: UMLS:C4748670 {source="OMIM:618196"} -xref: Orphanet:1053 {source="OMIM:618196"} -is_a: MONDO:0012016 {source="OMIM:618196"} ! capillary malformation-arteriovenous malformation syndrome -is_a: MONDO:0000001 {source="OMIM:618196"} ! disease or disorder -xref: OMIM:618196 {source="MONDO:equivalentTo"} ! capillary malformation-arteriovenous malformation 2 - [Term] id: MONDO:0012017 name: Parkes Weber syndrome @@ -238841,7 +238673,7 @@ synonym: "epilepsy, idiopathic generalized, susceptibility to, 3; EIG3" RELATED synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 9" RELATED [OMIM:608762] xref: OMIM:608762 {source="MONDO:equivalentTo"} xref: UMLS:C1837468 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608762"} -is_a: MONDO:0005579 {source="DC-OMIM:608762"} ! generalised epilepsy +is_a: MONDO:0005579 {source="DC-OMIM:608762"} ! epilepsy, idiopathic generalized [Term] id: MONDO:0012114 @@ -243312,7 +243144,7 @@ synonym: "epilepsy, idiopathic generalized, susceptibility to, 4; EIG4" RELATED synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10" RELATED [OMIM:609750] xref: OMIM:609750 {source="MONDO:equivalentTo"} xref: UMLS:C1857851 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:609750"} -is_a: MONDO:0005579 {source="DC-OMIM:609750"} ! generalised epilepsy +is_a: MONDO:0005579 {source="DC-OMIM:609750"} ! epilepsy, idiopathic generalized [Term] id: MONDO:0012339 @@ -249329,8 +249161,8 @@ property_value: confidence "2.3877919141235715" xsd:double id: MONDO:0012627 name: epilepsy, idiopathic generalized, susceptibility to, 13 def: "Any juvenile myoclonic epilepsy in which the cause of the disease is a mutation in the GABRA1 gene." [MONDO:patterns/disease_series_by_gene] -subset: predisposition comment: Editor note: check classification under EIG +subset: predisposition synonym: "EIG13" RELATED [MONDO:Lexical, OMIM:611136] synonym: "epilepsy, childhood absence, susceptibility to, 4" RELATED [OMIM:611136] synonym: "epilepsy, idiopathic generalized, susceptibility to, 13" EXACT [MONDO:Lexical, OMIM:611136] @@ -249346,7 +249178,7 @@ xref: Orphanet:307 {source="MONDO:subClassOf", source="OMIM:611136", source="MON xref: Orphanet:64280 {source="MONDO:relatedTo", source="OMIM:611136", source="MONDO:superClassOf"} xref: UMLS:C1970160 {source="OMIM:611136", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2749942 {source="OMIM:611136", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0005579 {source="MONDO:cjm"} ! generalised epilepsy +is_a: MONDO:0005579 {source="MONDO:cjm"} ! epilepsy, idiopathic generalized intersection_of: MONDO:0009696 ! juvenile myoclonic epilepsy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4075 ! GABRA1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4075 {source="mim2gene_medgen"} ! GABRA1 @@ -252103,7 +251935,7 @@ synonym: "epilepsy, idiopathic generalized, susceptibility to, 5; EIG5" RELATED synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10" RELATED [OMIM:611934] xref: OMIM:611934 {source="MONDO:equivalentTo"} xref: UMLS:C2677808 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:611934"} -is_a: MONDO:0005579 {source="DC-OMIM:611934"} ! generalised epilepsy +is_a: MONDO:0005579 {source="DC-OMIM:611934"} ! epilepsy, idiopathic generalized [Term] id: MONDO:0012761 @@ -257609,7 +257441,7 @@ synonym: "generalised epilepsy caused by mutation in CASR" EXACT [MONDO:design_p synonym: "susceptibility to idiopathic generalized epilepsy 8" RELATED [OMIM:612899] xref: OMIM:612899 {source="MONDO:equivalentTo"} xref: UMLS:C2752062 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612899"} -intersection_of: MONDO:0005579 ! generalised epilepsy +intersection_of: MONDO:0005579 ! epilepsy, idiopathic generalized intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1514 ! CASR relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1514 {source="mim2gene_medgen"} ! CASR property_value: confidence "3.0" xsd:double @@ -259090,7 +258922,7 @@ xref: UMLS:C3150398 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:613060 xref: UMLS:C3150399 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:613060"} xref: UMLS:C3150400 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:613060"} xref: UMLS:C3150401 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:613060"} -intersection_of: MONDO:0005579 ! generalised epilepsy +intersection_of: MONDO:0005579 ! epilepsy, idiopathic generalized intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4084 ! GABRD relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4084 {source="mim2gene_medgen"} ! GABRD relationship: predisposes_towards MONDO:0009696 ! juvenile myoclonic epilepsy @@ -275925,7 +275757,7 @@ synonym: "epilepsy, idiopathic generalized, susceptibility to, type 12" EXACT [M synonym: "susceptibility to idiopathic generalized epilepsy 12" RELATED [OMIM:614847] xref: OMIM:614847 {source="MONDO:equivalentTo"} xref: UMLS:C3553859 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:614847"} -is_a: MONDO:0005579 ! generalised epilepsy +is_a: MONDO:0005579 ! epilepsy, idiopathic generalized property_value: confidence "3.0" xsd:double [Term] @@ -280666,7 +280498,7 @@ xref: OMIM:615369 {source="DOID:0060475", source="MONDO:equivalentTo"} xref: Orphanet:1942 {source="MONDO:subClassOf", source="OMIM:615369"} xref: Orphanet:2382 {source="MONDO:subClassOf", source="OMIM:615369"} xref: UMLS:C3809278 {source="OMIM:615369", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0005579 {source="DOID:0060475"} ! generalised epilepsy +is_a: MONDO:0005579 {source="DOID:0060475"} ! epilepsy, idiopathic generalized is_a: MONDO:0016025 {source="ORDO:1942/btnt"} ! myoclonic-astastic epilepsy is_a: MONDO:0016532 {source="ORDO:2382/btnt"} ! Lennox-Gastaut syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1917 {source="mim2gene_medgen"} ! CHD2 @@ -287249,18 +287081,18 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29 id: MONDO:0014471 name: mitochondrial proton-transporting ATP synthase complex deficiency def: "A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS)." [Orphanet:254913] -subset: ordo_disease {source="Orphanet:254913"} comment: Consider splitting out nuclear type for OMIMPS +subset: ordo_disease {source="Orphanet:254913"} synonym: "isolated ATP synthase deficiency" NARROW [Orphanet:254913] synonym: "isolated mitochondrial respiratory chain complex V deficiency" NARROW [Orphanet:254913] synonym: "mitochondrial complex V (ATP synthase) deficiency" EXACT [DOID:0111143] xref: DOID:0111143 {source="MONDO:equivalentTo"} xref: ICD10:E88.8 {source="ORDO:254913/attributed", source="ORDO:254913/ntbt", source="Orphanet:254913"} -xref: OMIMPS:604273 {source="MONDO:equivalentTo"} ! mitochondrial complex v (atp synthase) deficiency, nuclear type xref: OMIM:604273 {source="ORDO:254913/btnt", source="MONDO:superClassOf", source="Orphanet:254913"} xref: OMIM:614053 {source="ORDO:254913/btnt", source="MONDO:superClassOf", source="Orphanet:254913"} xref: OMIM:615228 {source="ORDO:254913/btnt", source="MONDO:superClassOf", source="Orphanet:254913"} xref: OMIM:616045 {source="MONDO:superClassOf", source="ORDO:254913/w", source="Orphanet:254913"} +xref: OMIMPS:604273 {source="MONDO:equivalentTo"} xref: Orphanet:254913 {source="MONDO:equivalentTo", source="OMIM:616045"} xref: UMLS:C4015062 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="DC-OMIM:616045", source="OMIM:616045"} ! combined oxidative phosphorylation deficiency @@ -287270,15 +287102,6 @@ intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_dysfunction_of GO:0005753 ! mitochondrial proton-transporting ATP synthase complex relationship: excluded_subClassOf MONDO:0016805 {source="Orphanet:254913"} ! isolated oxidative phosphorylation complex disorder -[Term] -id: MONDO:0027069 -name: mitochondrial complex 5 (atp synthase) deficiency, mitochondrial type 1 -synonym: "mitochondrial complex V (ATP synthase) deficiency, mitochondrial type 1; MC5DM1" EXACT [OMIM:500015] -synonym: "MC5DM1" EXACT [OMIM:500015] -xref: UMLS:C3275684 {source="OMIM:500015"} -is_a: MONDO:0014471 -xref: OMIM:500015 {source="MONDO:equivalentTo"} ! mitochondrial complex 5 (atp synthase) deficiency, mitochondrial type 1 - [Term] id: MONDO:0014472 name: periodic fever-infantile enterocolitis-autoinflammatory syndrome @@ -290587,25 +290410,6 @@ xref: UMLS:C4225333 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo" is_a: MONDO:0018101 {source="ORDO:34527/btnt"} ! familial primary hypomagnesemia with normocalciuria and normocalcemia property_value: confidence "5.000000000000001" xsd:double -[Term] -id: MONDO:0020787 -name: hypomagnesemia, seizures, and intellectual disability 1 -synonym: "HOMGSMR1" RELATED [OMIM:616418] -synonym: "HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1; HOMGSMR1" RELATED [OMIM:616418] -xref: UMLS:C4225333 {source="OMIM:616418"} -xref: Orphanet:34527 {source="OMIM:616418"} -is_a: MONDO:0014631 {source="OMIM:616418"} ! hypomagnesemia, seizures, and mental retardation -relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/103 {source="mim2gene_medgen"} ! CNNM2 -xref: OMIM:616418 {source="MONDO:equivalentTo"} ! hypomagnesemia, seizures, and mental retardation 1 - -[Term] -id: MONDO:0020788 -name: hypomagnesemia, seizures, and intellectual disability 2 -synonym: "HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2; HOMGSMR2" RELATED [OMIM:618314] -xref: UMLS:C5193023 {source="OMIM:618314"} -is_a: MONDO:0014631 {source="OMIM:618314"} ! hypomagnesemia, seizures, and mental retardation -xref: OMIM:618314 {source="MONDO:equivalentTo"} ! hypomagnesemia, seizures, and mental retardation 2 - [Term] id: MONDO:0014632 name: hypomyelinating leukodystrophy 10 @@ -292650,7 +292454,7 @@ synonym: "epilepsy, idiopathic generalized, susceptibility to, type 14" EXACT [M synonym: "susceptibility to idiopathic generalized epilepsy 14" RELATED [OMIM:616685] xref: OMIM:616685 {source="MONDO:equivalentTo"} xref: UMLS:C4225245 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -intersection_of: MONDO:0005579 ! generalised epilepsy +intersection_of: MONDO:0005579 ! epilepsy, idiopathic generalized intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13818 ! SLC12A5 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13818 {source="mim2gene_medgen"} ! SLC12A5 property_value: confidence "3.0" xsd:double @@ -296793,28 +296597,12 @@ subset: ordo_disease synonym: "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" EXACT [OMIM:617186] synonym: "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy; PEBEL" EXACT [MONDOLEX:0014960] synonym: "PEBEL" EXACT ABBREVIATION [MONDOLEX:0014960, OMIM:617186] -xref: OMIMPS:617186 {source="MONDO:equivalentTo"} ! encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy +xref: OMIMPS:617186 {source="MONDO:equivalentTo"} xref: UMLS:C4310675 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="EFO:0009158"} ! inherited genetic disease is_a: MONDO:0019058 {source="Orphanet:555407"} ! neurometabolic disease is_a: MONDO:0024237 {source="Orphanet:555407"} ! inherited neurodegenerative disorder -[Term] -id: MONDO:0020781 -name: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 -synonym: "NAD(P)HX epimerase deficiency" EXACT [Orphanet:555407] -synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1; PEBEL1" RELATED [OMIM:617186] -xref: Orphanet:555407 {source="MONDO:equivalentTo"} -xref: UMLS:C4310675 {source="OMIM:617186"} -xref: Orphanet:555407 {source="OMIM:617186"} -xref: EFO:0009158 {source="MONDO:equivalentTo"} -is_a: MONDO:0014960 {source="OMIM:617186"} ! encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy -is_a: MONDO:0000001 {source="OMIM:617186"} ! disease or disorder -xref: OMIM:617186 {source="MONDO:equivalentTo"} ! encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 -relationship: disease_has_basis_in_disruption_of GO:0052856 ! NADHX epimerase activity -relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18453 {source="Orphanet:555407", source="mim2gene_medgen"} ! NAXE -relationship: has_modifier HP:0000007 {source="Orphanet:555407"} ! Autosomal recessive inheritance - [Term] id: MONDO:0014961 name: spermatogenic failure 16 @@ -297127,31 +296915,10 @@ synonym: "cone-rod dystrophy and hearing loss" EXACT [OMIM:617236] synonym: "cone-rod dystrophy and hearing loss; CRDHL" EXACT [MONDOLEX:0014980] synonym: "CRDHL" EXACT ABBREVIATION [MONDOLEX:0014980, OMIM:617236] xref: EFO:0009151 {source="MONDO:equivalentTo"} -xref: OMIMPS:617236 {source="MONDO:equivalentTo"} ! cone-rod dystrophy and hearing loss +xref: OMIMPS:617236 {source="MONDO:equivalentTo"} xref: UMLS:C4310657 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="EFO:0009151"} ! inherited genetic disease -[Term] -id: MONDO:0020778 -! ALREADY HAVE THIS: id: MONDO:0014980 ! cone-rod dystrophy and hearing loss -name: cone-rod dystrophy and hearing loss 1 -synonym: "CONE-ROD DYSTROPHY AND HEARING LOSS 1; CRDHL1" RELATED [OMIM:617236] -synonym: "Crdhl" RELATED [OMIM:617236] -xref: UMLS:C5193018 {source="OMIM:617236"} -is_a: MONDO:0014980 {source="OMIM:617236"} ! cone-rod dystrophy and hearing loss -is_a: MONDO:0000001 {source="OMIM:617236"} ! disease or disorder -relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25740 {source="mim2gene_medgen"} ! CEP78 -xref: OMIM:617236 {source="MONDO:equivalentTo"} ! cone-rod dystrophy and hearing loss 1 - -[Term] -id: MONDO:0020780 -name: cone-rod dystrophy and hearing loss 2 -synonym: "CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2" RELATED [OMIM:618358] -xref: UMLS:C5193051 {source="OMIM:618358"} -is_a: MONDO:0014980 {source="OMIM:618358"} ! cone-rod dystrophy and hearing loss -is_a: MONDO:0000001 {source="OMIM:618358"} ! disease or disorder -xref: OMIM:618358 {source="MONDO:equivalentTo"} ! cone-rod dystrophy and hearing loss 2 - [Term] id: MONDO:0014981 name: immunodeficiency 49 @@ -303552,12 +303319,12 @@ synonym: "oral-facial-digital syndrome" EXACT [Orphanet:140997] synonym: "oral-facial-digital syndromes" RELATED [GARD:0010692] synonym: "orofaciodigital syndrome" EXACT [MONDO:0003020] synonym: "orofaciodigital syndromes" RELATED [GARD:0010692] -xref: OMIMPS:311200 {source="MONDO:equivalentTo"} ! orofaciodigital syndrome xref: DOID:4501 {source="MONDO:equivalentTo"} xref: GARD:0010692 {source="MONDO:equivalentTo"} xref: ICD10:Q87.0 {source="ORDO:140997/ntbt", source="ORDO:140997/inclusion", source="Orphanet:140997"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D009958 {source="DOID:4501", source="MONDO:equivalentTo"} +xref: OMIMPS:311200 {source="MONDO:equivalentTo"} xref: Orphanet:140997 {source="MONDO:equivalentTo"} xref: SCTID:52868006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.75/1.28"} xref: UMLS:C0029294 {source="DOID:4501", source="MONDO:notFoundInDiseaseSubset", source="ORDO:140997/e", source="Orphanet:140997"} @@ -313618,7 +313385,7 @@ xref: SCTID:28055006 {source="MONDO:directSiblingOf", source="DOID:2481"} xref: SCTID:288197007 {source="DOID:2481"} xref: UMLS:C0037769 {source="MONDO:directSiblingOf", source="DOID:2481"} xref: UMLS:C0393706 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1934", source="ORDO:1934/e"} -is_a: MONDO:0005579 {source="DOID:2481", source="linkedlifedata/inferred"} ! generalised epilepsy +is_a: MONDO:0005579 {source="DOID:2481", source="linkedlifedata/inferred"} ! epilepsy, idiopathic generalized is_a: MONDO:0015922 {source="Orphanet:1934"} ! channelopathy with epilepsy is_a: MONDO:0100022 {source="Orphanet:1934", source="http://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome relationship: excluded_subClassOf MONDO:0015921 {source="Orphanet:1934"} ! ARX-related epileptic encephalopathy @@ -317154,9 +316921,9 @@ xref: GARD:0003318 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:Q87.8 {source="Orphanet:2136", source="ORDO:2136/attributed", source="ORDO:2136/ntbt"} xref: ICD9:457.1 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537255 {source="DOID:0060366"} -xref: OMIMPS:235510 {source="MONDO:equivalentTo"} ! hennekam lymphangiectasia-lymphedema syndrome xref: OMIM:235510 {source="DOID:0060366", source="Orphanet:2136", source="MONDO:superClassOf", source="ORDO:2136/btnt"} xref: OMIM:616006 {source="DOID:0060366", source="Orphanet:2136", source="MONDO:superClassOf", source="ORDO:2136/btnt"} +xref: OMIMPS:235510 {source="MONDO:equivalentTo"} xref: Orphanet:2136 {source="DOID:0060366", source="MONDO:equivalentTo"} xref: SCTID:234146006 {source="DOID:0060366", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.74/1.43"} xref: UMLS:C0340834 {source="MEDGEN:kboom-pr97-c98", source="ORDO:2136/e", source="DOID:0060366", source="Orphanet:2136", source="MONDO:equivalentTo"} @@ -347068,7 +346835,7 @@ xref: UMLS:C3502809 {source="MONDO:equivalentTo", source="Orphanet:36387", sourc is_a: MONDO:0005027 {source="https://www.clinicalgenome.org/affiliation/40005/"} ! epilepsy relationship: disease_has_feature HP:0002069 ! Generalized tonic-clonic seizures relationship: disease_has_feature HP:0002373 ! Febrile seizures -relationship: excluded_subClassOf MONDO:0005579 {source="DOID:0060170", source="MESH:C565808", source="MONDO:cjm", source="NCIT:C122811", source="linkedlifedata"} ! generalised epilepsy +relationship: excluded_subClassOf MONDO:0005579 {source="DOID:0060170", source="MESH:C565808", source="MONDO:cjm", source="NCIT:C122811", source="linkedlifedata"} ! epilepsy, idiopathic generalized property_value: confidence "1.1309583424662981" xsd:double [Term] @@ -355712,7 +355479,6 @@ synonym: "keratitis, ichthyosis, and deafness (KID) syndrome" RELATED [GARD:0003 synonym: "keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome" EXACT [Orphanet:477] synonym: "KID/HID syndrome" EXACT [Orphanet:477] synonym: "Senter syndrome" EXACT [Orphanet:477] -xref: OMIMPS:148210 {source="MONDO:equivalentTo"} ! keratitis-ichthyosis-deafness syndrome xref: GARD:0003113 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:Q80.8 {source="Orphanet:477", source="ORDO:477/attributed", source="ORDO:477/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} @@ -355720,6 +355486,7 @@ xref: MedDRA:10048786 {source="Orphanet:477", source="ORDO:477/e"} xref: OMIM:148210 {source="Orphanet:477", source="MONDO:superClassOf", source="ORDO:477/e"} xref: OMIM:242150 {source="Orphanet:477", source="MONDO:superClassOf", source="ORDO:477/btnt"} xref: OMIM:602540 {source="Orphanet:477", source="MONDO:superClassOf", source="ORDO:477/btnt"} +xref: OMIMPS:148210 {source="MONDO:equivalentTo"} xref: Orphanet:477 {source="MONDO:equivalentTo"} xref: SCTID:2625009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.68/1.93"} xref: UMLS:C0265336 {source="Orphanet:477", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c94"} @@ -358447,65 +358214,19 @@ property_value: confidence "1.964285714285714" xsd:double id: MONDO:0018925 name: familial or sporadic hemiplegic migraine def: "Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM)." [Orphanet:569] -synonym: "hemiplegic migraine" EXACT [] subset: ordo_disease {source="Orphanet:569"} +synonym: "hemiplegic migraine" EXACT [] xref: ICD10:G43.1 {source="Orphanet:569", source="ORDO:569/inclusion", source="ORDO:569/ntbt"} xref: OMIM:141500 {source="Orphanet:569", source="MONDO:superClassOf", source="ORDO:569/btnt"} xref: OMIM:602481 {source="Orphanet:569", source="MONDO:superClassOf", source="ORDO:569/btnt"} xref: OMIM:607516 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:569", source="ORDO:569/ntbt"} xref: OMIM:609634 {source="Orphanet:569", source="MONDO:superClassOf", source="ORDO:569/btnt"} xref: Orphanet:569 {source="MONDO:equivalentTo"} -property_value: excluded_subClassOf MONDO:0015642 {source="Orphanet:569"} ! benign partial infantile seizures -property_value: excluded_subClassOf MONDO:0015953 {source="Orphanet:569"} ! genetic central nervous system and retinal vascular disease is_a: MONDO:0020676 {source="Orphanet:569"} ! disease of central nervous system or retinal vasculature +relationship: excluded_subClassOf MONDO:0015642 {source="Orphanet:569"} ! benign partial infantile seizures +relationship: excluded_subClassOf MONDO:0015953 {source="Orphanet:569"} ! genetic central nervous system and retinal vascular disease relationship: has_modifier MONDO:0021136 {source="MONDO:0019110"} ! rare -[Term] -id: MONDO:0020757 -name: sporadic hemiplegic migraine -def: "A migraine disorder characterized by an aura that includes motor weakness and the absence of family history." [NCIT:C117011] -synonym: "sporadic hemiplegic migraine" EXACT [NCIT:C117011] -xref: UMLS:C1832903 {source="NCIT:C117011", source="MONDO:notFoundInDiseaseSubset", source="OMIM:141500"} -is_a: MONDO:0018925 {source="MONDO:cjm"} -is_a: MONDO:0005277 {source="NCIT:C117011"} ! migraine disorder -xref: NCIT:C117011 {source="MONDO:equivalentTo"} ! sporadic hemiplegic migraine -disjoint_from: MONDO:0000700 - - -[Term] -id: MONDO:0020756 -name: migraine, familial hemiplegic, 1 -subset: gard_rare -synonym: "MHP1" EXACT [OMIM:141500] -synonym: "migraine, familial hemiplegic 1, with progressive cerebellar ataxia" EXACT [OMIM:141500] -synonym: "migraine, familial hemiplegic, 1; FHM1" EXACT [OMIM:141500] -synonym: "migraine, sporadic hemiplegic" EXACT [OMIM:141500] -synonym: "familial hemiplegic migraine type 1" EXACT [GARD:0002638] -synonym: "FHM1" EXACT [GARD:0002638, MONDO:Lexical, OMIM:141500] -synonym: "hemiplegic migraine, familial type 1" EXACT [GARD:0002638] -synonym: "MHP1" EXACT [GARD:0002638] -synonym: "MHP1" EXACT [OMIM:141500] -synonym: "migraine, familial hemiplegic 1, with progressive cerebellar ataxia" EXACT [GARD:0002638, OMIM:141500] -synonym: "migraine, familial hemiplegic, 1" EXACT [MONDO:Lexical, OMIM:141500] -synonym: "migraine, familial hemiplegic, 1; FHM1" EXACT [OMIM:141500] -synonym: "migraine, familial hemiplegic, type 1" EXACT [MONDORULE:1, OMIM:141500] -xref: UMLS:C1832884 {source="OMIM:141500"} -xref: UMLS:C1832903 {source="OMIM:141500"} -xref: GARD:0002638 {source="MONDO:equivalentTo"} -xref: Orphanet:569 {source="OMIM:141500"} -is_a: MONDO:0000001 {source="OMIM:141500"} ! disease or disorder -xref: OMIM:141500 {source="MONDO:equivalentTo"} ! migraine, familial hemiplegic, 1 -xref: UMLS:C1832884 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:141500"} -xref: UMLS:C1832894 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1388 {source="mim2gene_medgen"} ! CACNA1A - -[Term] -id: MONDO:0007714 -name: obsolete migraine, familial hemiplegic, 1 -consider: MONDO:0020756 -consider: MONDO:0000700 -is_obsolete: true - [Term] id: MONDO:0018926 name: human prion disease @@ -359561,10 +359282,10 @@ xref: ICD10:Q87.81 {source="MONDO:equivalentTo"} xref: MedDRA:10001843 {source="Orphanet:63", source="ORDO:63/e"} xref: MESH:D009394 {source="DOID:10983", source="MONDO:relatedTo", source="Orphanet:63", source="ORDO:63/e"} xref: NCIT:C34842 {source="MONDO:kboom-pr-0.89/0.78/0.06", source="MONDO:equivalentTo"} -xref: OMIMPS:301050 {source="MONDO:equivalentTo"} ! alport syndrome xref: OMIM:104200 {source="MONDO:superClassOf", source="ORDO:63/btnt", source="Orphanet:63"} xref: OMIM:203780 {source="MONDO:superClassOf", source="ORDO:63/btnt", source="Orphanet:63"} xref: OMIM:301050 {source="MONDO:superClassOf", source="ORDO:63/btnt", source="Orphanet:63"} +xref: OMIMPS:301050 {source="MONDO:equivalentTo"} xref: Orphanet:63 {source="DOID:10983", source="MONDO:equivalentTo"} xref: SCTID:399340005 {source="DOID:10983"} xref: SCTID:57333009 {source="DOID:10983"} @@ -360110,11 +359831,11 @@ xref: OMIM:615217 {source="Orphanet:64753", source="MONDO:superClassOf", source= xref: Orphanet:64753 {source="MONDO:equivalentTo"} xref: SCTID:725408001 {source="MONDO:equivalentTo"} xref: UMLS:CN205441 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0020771 {source="OMIM:606002"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy is_a: MONDO:0015244 {source="DOID:0050755", source="MONDO:Redundant", source="Orphanet:64753/inferred"} ! autosomal recessive cerebellar ataxia is_a: MONDO:0020045 {source="Orphanet:64753"} ! autosomal recessive cerebellar ataxia due to a DNA repair defect is_a: MONDO:0020127 {source="Orphanet:64753"} ! genetic peripheral neuropathy is_a: MONDO:0020258 {source="Orphanet:64753"} ! oculomotor apraxia or related oculomotor disease +is_a: MONDO:0020771 {source="OMIM:606002"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [Term] id: MONDO:0018997 @@ -371866,7 +371587,6 @@ synonym: "X-linked non-syndromic sensorineural deafness type DFN" RELATED [Orpha synonym: "X-linked non-syndromic sensorineural hearing loss type DFN" EXACT [Orphanet:90625] synonym: "X-linked nonsyndromic genetic deafness" EXACT [MONDO:design_pattern] xref: DOID:0050566 {source="MONDO:equivalentTo"} -xref: OMIMPS:304500 {source="DOID:0050566"} xref: ICD10:H90.3 {source="ORDO:90625/attributed", source="ORDO:90625/ntbt", source="DOID:0050566", source="Orphanet:90625"} xref: OMIM:300030 {source="ORDO:90625/btnt", source="DOID:0050566", source="MONDO:superClassOf", source="Orphanet:90625"} xref: OMIM:300066 {source="ORDO:90625/btnt", source="DOID:0050566", source="MONDO:superClassOf", source="Orphanet:90625"} @@ -371874,6 +371594,7 @@ xref: OMIM:300614 {source="DOID:0050566", source="MONDO:superClassOf"} xref: OMIM:300914 {source="ORDO:90625/btnt", source="DOID:0050566", source="MONDO:superClassOf", source="Orphanet:90625"} xref: OMIM:304400 {source="DOID:0050566", source="MONDO:superClassOf"} xref: OMIM:304500 {source="ORDO:90625/btnt", source="DOID:0050566", source="MONDO:superClassOf", source="Orphanet:90625"} +xref: OMIMPS:304500 {source="DOID:0050566"} xref: Orphanet:90625 {source="DOID:0050566", source="MONDO:equivalentTo"} xref: UMLS:CN206422 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0016297 {source="Orphanet:90625"} ! prelingual non-syndromic genetic deafness @@ -371882,18 +371603,6 @@ is_a: MONDO:0020768 {source="MONDO:cjm"} ! X-linked deafness intersection_of: MONDO:0019497 ! nonsyndromic genetic deafness intersection_of: has_modifier HP:0001417 ! X-linked inheritance -[Term] -id: MONDO:0020768 -name: X-linked deafness -comment: Note that this encompasses both syndromic and non-syndromic types. -synonym: "deafness, X-linked" EXACT [OMIMPS:304500] -synonym: "DFNX" EXACT [MONDO:cjm] -synonym: "deafness, X-linked, DFN" EXACT [GARD:0001715] -xref: GARD:0001715 {source="MONDO:equivalentTo"} -xref: OMIMPS:304500 {source="MONDO:cjm", source="MONDO:equivalentTo"} -intersection_of: MONDO:0005365 ! hearing loss disorder -intersection_of: has_modifier HP:0001417 ! X-linked inheritance - [Term] id: MONDO:0019587 name: autosomal dominant nonsyndromic deafness @@ -373546,7 +373255,6 @@ synonym: "spondyloepimetaphyseal dysplasia joint laxity" RELATED [GARD:0004982] synonym: "spondyloepimetaphyseal dysplasia with joint laxity" EXACT [GARD:0004982] synonym: "spondyloepimetaphyseal dysplasia with joint laxity type 1" EXACT [Orphanet:93359] synonym: "spondyloepimetaphyseal dysplasia with joint laxity, Beighton type" EXACT [Orphanet:93359] -xref: OMIMPS:271640 {source="MONDO:equivalentTo"} ! spondyloepimetaphyseal dysplasia with joint laxity xref: DC:0000688 {source="MONDO:equivalentTo"} xref: GARD:0004982 {source="MONDO:equivalentTo"} xref: ICD10:Q77.7 {source="ORDO:93359/attributed", source="ORDO:93359/ntbt", source="Orphanet:93359"} @@ -373554,6 +373262,7 @@ xref: ICD9:719.80 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562968 {source="MONDO:equivalentTo", source="MONDO:ontobio"} xref: OMIM:271640 {source="GARD:0004982", source="MONDO:superClassOf", source="ORDO:93359/e", source="Orphanet:93359"} +xref: OMIMPS:271640 {source="MONDO:equivalentTo"} xref: Orphanet:93359 {source="GARD:0004982", source="MONDO:equivalentTo"} xref: SCTID:254100000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/29.66"} xref: UMLS:C0432243 {source="GARD:0004982", source="MONDO:notFoundInDiseaseSubset", source="ORDO:93359/e", source="Orphanet:93359"} @@ -382629,7 +382338,7 @@ xref: OMIM:608098 {source="ORDO:98892/btnt", source="DOID:0050454", source="MOND xref: OMIM:612881 {source="ORDO:98892/btnt", source="DOID:0050454", source="MONDO:superClassOf", source="Orphanet:98892"} xref: OMIM:615544 {source="ORDO:98892/btnt", source="DOID:0050454", source="MONDO:superClassOf", source="Orphanet:98892"} xref: OMIM:617201 {source="MONDO:superClassOf", source="Orphanet:98892"} -xref: OMIMPS:300049 {source="MONDO:equivalentTo"} ! periventricular nodular heterotopia +xref: OMIMPS:300049 {source="MONDO:equivalentTo"} xref: Orphanet:98892 {source="DOID:0050454", source="MONDO:equivalentTo"} xref: SCTID:448227009 {source="DOID:0050454", source="MONDO:superClassOf"} xref: UMLS:C1848213 {source="DOID:0050454", source="MONDO:notFoundInDiseaseSubset"} @@ -388485,12 +388194,68 @@ is_a: MONDO:0005718 {source="NCBITaxon:2501931"} ! Coronaviridae infectious dise intersection_of: MONDO:0005550 ! infectious disease intersection_of: realized_in_response_to_stimulus NCBITaxon:2501931 ! Orthocoronavirinae +[Term] +id: MONDO:0020754 +name: visceral myopathy +synonym: "infantile visceral myopathy" RELATED [OMIM:155310] +synonym: "megaduodenum and/or megacystis" RELATED [OMIM:155310] +synonym: "pseudoobstruction, idiopathic intestinal" RELATED [OMIM:155310] +synonym: "visceral myopathy; VSCM" RELATED [OMIM:155310] +xref: OMIM:155310 {source="MONDO:equivalentTo"} +xref: Orphanet:2604 {source="OMIM:155310"} +xref: UMLS:C0042781 {source="OMIM:155310"} +xref: UMLS:C1608393 {source="OMIM:155310"} +is_a: MONDO:0000001 {source="OMIM:155310"} ! disease or disorder + [Term] id: MONDO:0020755 name: heart block xref: SCTID:233916004 {source="MONDO:equivalentTo"} is_a: MONDO:0000992 ! heart conduction disease +[Term] +id: MONDO:0020756 +name: migraine, familial hemiplegic, 1 +subset: gard_rare +synonym: "familial hemiplegic migraine type 1" EXACT [GARD:0002638] +synonym: "FHM1" EXACT [GARD:0002638, MONDO:Lexical, OMIM:141500] +synonym: "hemiplegic migraine, familial type 1" EXACT [GARD:0002638] +synonym: "MHP1" EXACT [GARD:0002638, OMIM:141500] +synonym: "migraine, familial hemiplegic 1, with progressive cerebellar ataxia" EXACT [GARD:0002638, OMIM:141500] +synonym: "migraine, familial hemiplegic, 1" EXACT [MONDO:Lexical, OMIM:141500] +synonym: "migraine, familial hemiplegic, 1; FHM1" EXACT [OMIM:141500] +synonym: "migraine, familial hemiplegic, type 1" EXACT [MONDORULE:1, OMIM:141500] +synonym: "migraine, sporadic hemiplegic" EXACT [OMIM:141500] +xref: GARD:0002638 {source="MONDO:equivalentTo"} +xref: OMIM:141500 {source="MONDO:equivalentTo"} +xref: Orphanet:569 {source="OMIM:141500"} +xref: UMLS:C1832884 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:141500"} +xref: UMLS:C1832894 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1832903 {source="OMIM:141500"} +is_a: MONDO:0000001 {source="OMIM:141500"} ! disease or disorder +relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1388 {source="mim2gene_medgen"} ! CACNA1A + +[Term] +id: MONDO:0020757 +name: sporadic hemiplegic migraine +def: "A migraine disorder characterized by an aura that includes motor weakness and the absence of family history." [NCIT:C117011] +synonym: "sporadic hemiplegic migraine" EXACT [NCIT:C117011] +xref: NCIT:C117011 {source="MONDO:equivalentTo"} +xref: UMLS:C1832903 {source="NCIT:C117011", source="MONDO:notFoundInDiseaseSubset", source="OMIM:141500"} +is_a: MONDO:0005277 {source="NCIT:C117011"} ! migraine disorder +is_a: MONDO:0018925 {source="MONDO:cjm"} ! familial or sporadic hemiplegic migraine + +[Term] +id: MONDO:0020759 +name: epilepsy, childhood absence, susceptibility to, 1 +synonym: "ECA1" EXACT [OMIM:600131] +synonym: "epilepsy, childhood absence, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:600131] +synonym: "epilepsy, childhood absence, susceptibility to, 1; ECA1" RELATED [OMIM:600131] +xref: OMIM:600131 {source="MONDO:equivalentTo"} +xref: Orphanet:64280 {source="OMIM:600131"} +xref: UMLS:C1838604 {source="OMIM:600131"} +is_a: MONDO:0010826 {source="OMIM:600131"} ! childhood absence epilepsy + [Term] id: MONDO:0020760 name: skin squamous cell carcinoma in situ @@ -388533,6 +388298,22 @@ is_a: MONDO:0020760 {source="NCIT:C62571"} ! skin squamous cell carcinoma in sit relationship: has_modifier MONDO:0021136 {source="GARD:0005948"} ! rare relationship: has_modifier MONDO:0024493 {source="UMLS:C0006079"} ! tumor grade 3, general grading system +[Term] +id: MONDO:0020762 +name: diencephalic-mesencephalic junction dysplasia syndrome 2 +synonym: "DMJDS2" EXACT [OMIM:618646] +synonym: "spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia" RELATED [OMIM:618646] +xref: OMIM:618646 {source="MONDO:equivalentTo"} +is_a: MONDO:0033211 {source="OMIM:618646"} ! diencephalic-mesencephalic junction dysplasia syndrome + +[Term] +id: MONDO:0020763 +name: Menke-Hennekam syndrome 1 +synonym: "Menke-Hennekam syndrome 1; MKHK1" RELATED [OMIM:618332] +xref: OMIM:618332 {source="MONDO:equivalentTo"} +xref: UMLS:C5193034 {source="OMIM:618332"} +is_a: MONDO:0020774 {source="OMIM:618332"} ! Menke-Hennekam syndrome + [Term] id: MONDO:0020764 name: carcinoma, Brown-Pearce @@ -388547,6 +388328,26 @@ xref: MESH:D002284 {source="UMLS:C0007122", source="MONDO:equivalentTo"} xref: UMLS:C0007122 {source="MONDO:equivalentTo"} is_a: MONDO:0004993 ! carcinoma +[Term] +id: MONDO:0020765 +name: neuropathy, congenital hypomyelinating, 2 +synonym: "CHN2" RELATED [OMIM:618184] +synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING, 2; CHN2" RELATED [OMIM:618184] +xref: OMIM:618184 {source="MONDO:equivalentTo"} +xref: Orphanet:64748 {source="OMIM:618184"} +xref: UMLS:C4722277 {source="OMIM:618184"} +is_a: MONDO:0033352 {source="OMIM:618184"} ! neuropathy, congenital hypomelinating + +[Term] +id: MONDO:0020766 +name: neuropathy, congenital hypomyelinating, 3 +synonym: "CHN3" RELATED [OMIM:618186] +synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING, 3; CHN3" RELATED [OMIM:618186] +xref: OMIM:618186 {source="MONDO:equivalentTo"} +xref: Orphanet:2680 {source="OMIM:618186"} +xref: UMLS:C4748608 {source="OMIM:618186"} +is_a: MONDO:0033352 {source="OMIM:618186"} ! neuropathy, congenital hypomelinating + [Term] id: MONDO:0020767 name: cauda equina syndrome with neurogenic bladder @@ -388560,6 +388361,53 @@ xref: SCTID:12454008 {source="MONDO:equivalentTo", source="UMLS:C0007459"} xref: UMLS:C0007459 {source="MONDO:equivalentTo"} is_a: MONDO:0005693 {source="NCIT:C34453", source="UMLS:C0007459"} ! cauda equina syndrome +[Term] +id: MONDO:0020768 +name: X-linked deafness +comment: Note that this encompasses both syndromic and non-syndromic types. +synonym: "deafness, X-linked" EXACT [OMIMPS:304500] +synonym: "deafness, X-linked, DFN" EXACT [GARD:0001715] +synonym: "DFNX" EXACT [MONDO:cjm] +xref: GARD:0001715 {source="MONDO:equivalentTo"} +xref: OMIMPS:304500 {source="MONDO:cjm", source="MONDO:equivalentTo"} +intersection_of: MONDO:0005365 ! hearing loss disorder +intersection_of: has_modifier HP:0001417 ! X-linked inheritance + +[Term] +id: MONDO:0020769 +name: Menke-Hennekam syndrome 2 +synonym: "Menke-Hennekam syndrome 2; MKHK2" RELATED [OMIM:618333] +xref: OMIM:618333 {source="MONDO:equivalentTo"} +xref: UMLS:C5193035 {source="OMIM:618333"} +is_a: MONDO:0020774 {source="OMIM:618333"} ! Menke-Hennekam syndrome + +[Term] +id: MONDO:0020770 +name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 +synonym: "SCAN3" RELATED [OMIM:618387] +synonym: "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3; SCAN3" RELATED [OMIM:618387] +xref: OMIM:618387 {source="MONDO:equivalentTo"} +xref: UMLS:C5193070 {source="OMIM:618387"} +is_a: MONDO:0020771 {source="OMIM:618387"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy + +[Term] +id: MONDO:0020771 +name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy +synonym: "SCAN" EXACT [MONDO:cjm] +xref: OMIMPS:607250 {source="MONDO:equivalentTo"} +is_a: MONDO:0015244 {source="MONDO:cjm"} ! autosomal recessive cerebellar ataxia + +[Term] +id: MONDO:0020772 +name: epilepsy, juvenile absence, susceptibility to, 1 +synonym: "EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1; EJA1" RELATED [OMIM:607631] +synonym: "JAE1" RELATED [OMIM:607631] +xref: OMIM:607631 {source="MONDO:equivalentTo"} +xref: Orphanet:1941 {source="OMIM:607631"} +xref: UMLS:C2750892 {source="OMIM:607631"} +is_a: MONDO:0000001 {source="OMIM:607631"} ! disease or disorder +is_a: MONDO:0011876 {source="OMIM:607631"} ! juvenile absence epilepsy + [Term] id: MONDO:0020773 name: cerebrospinal fluid rhinorrhea @@ -388612,6 +388460,22 @@ xref: SCTID:85638002 {source="MONDO:equivalentTo", source="UMLS:C0007815"} xref: UMLS:C0007815 {source="MONDO:equivalentTo"} is_a: MONDO:0043327 {source="MESH:D002559"} ! cerebrospinal fluid leak +[Term] +id: MONDO:0020774 +name: Menke-Hennekam syndrome +xref: OMIMPS:618332 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 ! inherited genetic disease + +[Term] +id: MONDO:0020775 +name: congenital disorder of glycosylation with defective fucosylation 1 +synonym: "Cdgf" RELATED [OMIM:618005] +synonym: "CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1; CDGF1" RELATED [OMIM:618005] +xref: OMIM:618005 {source="MONDO:equivalentTo"} +xref: UMLS:C4693905 {source="OMIM:618005"} +is_a: MONDO:0000001 {source="OMIM:618005"} ! disease or disorder +is_a: MONDO:0060720 {source="OMIM:618005"} ! congenital disorder of glycosylation with defective fucosylation + [Term] id: MONDO:0020776 name: chlamydiaceae infections @@ -388627,6 +388491,26 @@ is_a: MONDO:0021678 {source="MESH:D002694"} ! gram-negative bacterial infections intersection_of: MONDO:0005550 ! infectious disease intersection_of: realized_in_response_to_stimulus NCBITaxon:809 ! Chlamydiaceae +[Term] +id: MONDO:0020777 +name: congenital disorder of glycosylation with defective fucosylation 2 +synonym: "CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2; CDGF2" RELATED [OMIM:618324] +xref: OMIM:618324 {source="MONDO:equivalentTo"} +xref: UMLS:C5193028 {source="OMIM:618324"} +is_a: MONDO:0000001 {source="OMIM:618324"} ! disease or disorder +is_a: MONDO:0060720 {source="OMIM:618324"} ! congenital disorder of glycosylation with defective fucosylation + +[Term] +id: MONDO:0020778 +name: cone-rod dystrophy and hearing loss 1 +synonym: "CONE-ROD DYSTROPHY AND HEARING LOSS 1; CRDHL1" RELATED [OMIM:617236] +synonym: "Crdhl" RELATED [OMIM:617236] +xref: OMIM:617236 {source="MONDO:equivalentTo"} +xref: UMLS:C5193018 {source="OMIM:617236"} +is_a: MONDO:0000001 {source="OMIM:617236"} ! disease or disorder +is_a: MONDO:0014980 {source="OMIM:617236"} ! cone-rod dystrophy and hearing loss +relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25740 {source="mim2gene_medgen"} ! CEP78 + [Term] id: MONDO:0020779 name: cartilage development disorder @@ -388649,6 +388533,30 @@ intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_disrupts GO:0051216 ! cartilage development relationship: disease_has_location UBERON:0002418 ! cartilage tissue +[Term] +id: MONDO:0020780 +name: cone-rod dystrophy and hearing loss 2 +synonym: "CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2" RELATED [OMIM:618358] +xref: OMIM:618358 {source="MONDO:equivalentTo"} +xref: UMLS:C5193051 {source="OMIM:618358"} +is_a: MONDO:0000001 {source="OMIM:618358"} ! disease or disorder +is_a: MONDO:0014980 {source="OMIM:618358"} ! cone-rod dystrophy and hearing loss + +[Term] +id: MONDO:0020781 +name: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 +synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1; PEBEL1" RELATED [OMIM:617186] +synonym: "NAD(P)HX epimerase deficiency" EXACT [Orphanet:555407] +xref: EFO:0009158 {source="MONDO:equivalentTo"} +xref: OMIM:617186 {source="MONDO:equivalentTo"} +xref: Orphanet:555407 {source="MONDO:equivalentTo", source="OMIM:617186"} +xref: UMLS:C4310675 {source="OMIM:617186"} +is_a: MONDO:0000001 {source="OMIM:617186"} ! disease or disorder +is_a: MONDO:0014960 {source="OMIM:617186"} ! encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy +relationship: disease_has_basis_in_disruption_of GO:0052856 ! NADHX epimerase activity +relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18453 {source="Orphanet:555407", source="mim2gene_medgen"} ! NAXE +relationship: has_modifier HP:0000007 {source="Orphanet:555407"} ! Autosomal recessive inheritance + [Term] id: MONDO:0020782 name: chronic gingivitis @@ -388665,6 +388573,66 @@ is_a: MONDO:0002508 {source="NCIT:C34474", source="UMLS:C0008684"} ! gingivitis intersection_of: MONDO:0002508 ! gingivitis intersection_of: has_modifier PATO:0001863 ! chronic +[Term] +id: MONDO:0020783 +name: capillary malformation-arteriovenous malformation 1 +synonym: "Capillary Malformation-Arteriovenous Malformation" RELATED [OMIM:608354] +synonym: "CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM1" RELATED [OMIM:608354] +xref: OMIM:608354 {source="MONDO:equivalentTo"} +xref: Orphanet:137667 {source="OMIM:608354"} +xref: Orphanet:2346 {source="OMIM:608354"} +xref: Orphanet:90307 {source="OMIM:608354"} +xref: UMLS:C1842180 {source="OMIM:608354"} +xref: UMLS:C4747394 {source="OMIM:608354"} +is_a: MONDO:0000001 {source="OMIM:608354"} ! disease or disorder +is_a: MONDO:0012016 {source="OMIM:608354"} ! capillary malformation-arteriovenous malformation syndrome +relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9871 {source="mim2gene_medgen"} ! RASA1 + +[Term] +id: MONDO:0020784 +name: obsolete short sleep, familial natural, 1 +synonym: "Short Sleep Phenotype" RELATED [OMIM:612975] +synonym: "SHORT SLEEP, FAMILIAL NATURAL, 1; FNSS1" RELATED [OMIM:612975] +xref: OMIM:612975 {source="MONDO:obsoleteEquivalent"} +xref: UMLS:C0751509 {source="OMIM:612975"} +is_obsolete: true + +[Term] +id: MONDO:0020785 +name: capillary malformation-arteriovenous malformation 2 +synonym: "CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2; CMAVM2" RELATED [OMIM:618196] +xref: OMIM:618196 {source="MONDO:equivalentTo"} +xref: Orphanet:1053 {source="OMIM:618196"} +xref: UMLS:C4748670 {source="OMIM:618196"} +is_a: MONDO:0000001 {source="OMIM:618196"} ! disease or disorder +is_a: MONDO:0012016 {source="OMIM:618196"} ! capillary malformation-arteriovenous malformation syndrome + +[Term] +id: MONDO:0020786 +name: obsolete short sleep, familial natural, 2 +synonym: "SHORT SLEEP, FAMILIAL NATURAL, 2; FNSS2" RELATED [OMIM:618591] +xref: OMIM:618591 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true + +[Term] +id: MONDO:0020787 +name: hypomagnesemia, seizures, and intellectual disability 1 +synonym: "HOMGSMR1" RELATED [OMIM:616418] +synonym: "HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1; HOMGSMR1" RELATED [OMIM:616418] +xref: OMIM:616418 {source="MONDO:equivalentTo"} +xref: Orphanet:34527 {source="OMIM:616418"} +xref: UMLS:C4225333 {source="OMIM:616418"} +is_a: MONDO:0014631 {source="OMIM:616418"} ! hypomagnesemia, seizures, and intellectual disability +relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/103 {source="mim2gene_medgen"} ! CNNM2 + +[Term] +id: MONDO:0020788 +name: hypomagnesemia, seizures, and intellectual disability 2 +synonym: "HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2; HOMGSMR2" RELATED [OMIM:618314] +xref: OMIM:618314 {source="MONDO:equivalentTo"} +xref: UMLS:C5193023 {source="OMIM:618314"} +is_a: MONDO:0014631 {source="OMIM:618314"} ! hypomagnesemia, seizures, and intellectual disability + [Term] id: MONDO:0020797 name: decompression sickness @@ -413549,6 +413517,32 @@ intersection_of: MONDO:0005550 ! infectious disease intersection_of: MONDO:0019956 ! encephalitis intersection_of: realized_in_response_to_stimulus NCBITaxon:10368 ! Human betaherpesvirus 6 +[Term] +id: MONDO:0027048 +name: deafness, Y-linked 2 +synonym: "DFNY2" EXACT [OMIM:400047] +xref: OMIM:400047 {source="MONDO:equivalentTo"} +xref: UMLS:C5193013 {source="OMIM:400047"} +is_a: MONDO:0000001 {source="OMIM:400047"} ! disease or disorder +is_a: MONDO:0033304 ! nonsyndromic deafness, Y-linked + +[Term] +id: MONDO:0027068 +name: mitochondrial complex 1 deficiency, mitochondrial type 1 +synonym: "mitochondrial complex i deficiency, mitochondrial type 1; MC1DM1" RELATED [OMIM:500014] +xref: OMIM:500014 {source="MONDO:equivalentTo"} +xref: UMLS:C4746992 {source="OMIM:500014"} +is_a: MONDO:0000001 {source="OMIM:500014"} ! disease or disorder + +[Term] +id: MONDO:0027069 +name: mitochondrial complex 5 (atp synthase) deficiency, mitochondrial type 1 +synonym: "MC5DM1" EXACT [OMIM:500015] +synonym: "mitochondrial complex V (ATP synthase) deficiency, mitochondrial type 1; MC5DM1" EXACT [OMIM:500015] +xref: OMIM:500015 {source="MONDO:equivalentTo"} +xref: UMLS:C3275684 {source="OMIM:500015"} +is_a: MONDO:0014471 ! mitochondrial proton-transporting ATP synthase complex deficiency + [Term] id: MONDO:0027091 name: xanthogranulomatous sialadenitis @@ -414839,6 +414833,12 @@ xref: Orphanet:244 {source="MONDO:subClassOf", source="OMIM:617577"} xref: UMLS:C4539798 {source="OMIM:617577", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0016575 {source="DOID:0080266", source="MONDOLEX:0033204", source="OMIM:617577"} ! primary ciliary dyskinesia +[Term] +id: MONDO:0033211 +name: diencephalic-mesencephalic junction dysplasia syndrome +xref: OMIMPS:251280 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 ! inherited genetic disease + [Term] id: MONDO:0033258 name: deafness, autosomal dominant 71 @@ -414943,6 +414943,14 @@ xref: UMLS:CN388855 {source="MONDO:equivalentTo"} is_a: MONDO:0004069 {source="DOID:0080274", source="indirect"} ! inborn mitochondrial metabolism disorder is_a: MONDO:0017338 {source="OMIM:617613"} ! fatal multiple mitochondrial dysfunctions syndrome +[Term] +id: MONDO:0033304 +name: nonsyndromic deafness, Y-linked +xref: OMIMPS:400043 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 ! inherited genetic disease +intersection_of: MONDO:0019497 ! nonsyndromic genetic deafness +intersection_of: has_modifier HP:0001450 ! Y-linked inheritance + [Term] id: MONDO:0033308 name: Joubert syndrome 30 @@ -414999,6 +415007,13 @@ xref: UMLS:C4539944 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617629 xref: UMLS:CN404275 {source="MONDO:equivalentTo"} is_a: MONDO:0005090 {source="DOID:0080281"} ! schizophrenia (disease) +[Term] +id: MONDO:0033352 +name: neuropathy, congenital hypomelinating +synonym: "CHN" EXACT [MONDO:cjm] +xref: OMIMPS:605253 {source="MONDO:equivalentTo"} +is_a: MONDO:0020127 {source="MONDO:cjm"} ! genetic peripheral neuropathy + [Term] id: MONDO:0033361 name: epileptic encephalopathy, early infantile, 52 @@ -415657,15 +415672,14 @@ is_a: MONDO:0019744 {source="Orphanet:544628"} ! rare renal tubular disease id: MONDO:0034121 name: NAD(P)HX dehydratase deficiency subset: ordo_disease -synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2; PEBEL2" RELATED [OMIM:618321] -xref: Orphanet:555402 {source="OMIM:618321"} +synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2; PEBEL2" RELATED [OMIM:618321] xref: OMIM:618321 {source="Orphanet:555402", source="MONDO:equivalentTo"} -xref: Orphanet:555402 {source="MONDO:equivalentTo"} +xref: Orphanet:555402 {source="MONDO:equivalentTo", source="OMIM:618321"} xref: UMLS:C5193026 {source="OMIM:618321"} +is_a: MONDO:0014960 {source="OMIM:618321"} ! encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy is_a: MONDO:0019058 {source="Orphanet:555402"} ! neurometabolic disease is_a: MONDO:0019602 {source="Orphanet:555402"} ! other inborn metabolic disease is_a: MONDO:0024237 {source="Orphanet:555402"} ! inherited neurodegenerative disorder -is_a: MONDO:0014960 {source="OMIM:618321"} ! encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy relationship: disease_has_basis_in_disruption_of GO:0047453 ! ATP-dependent NAD(P)H-hydrate dehydratase activity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25576 {source="Orphanet:555402"} ! NAXD relationship: has_modifier HP:0000007 {source="Orphanet:555402"} ! Autosomal recessive inheritance @@ -422602,22 +422616,6 @@ xref: OMIMPS:612975 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0751509 {source="OMIM:612975", source="MONDO:notFoundInDiseaseSubset"} is_obsolete: true -[Term] -id: MONDO:0020784 -name: obsolete short sleep, familial natural, 1 -synonym: "Short Sleep Phenotype" RELATED [OMIM:612975] -synonym: "SHORT SLEEP, FAMILIAL NATURAL, 1; FNSS1" RELATED [OMIM:612975] -is_obsolete: true -xref: UMLS:C0751509 {source="OMIM:612975"} -xref: OMIM:612975 {source="MONDO:obsoleteEquivalent"} ! short sleep, familial natural, 1 - -[Term] -id: MONDO:0020786 -name: obsolete short sleep, familial natural, 2 -synonym: "SHORT SLEEP, FAMILIAL NATURAL, 2; FNSS2" RELATED [OMIM:618591] -is_obsolete: true -xref: OMIM:618591 {source="MONDO:obsoleteEquivalent"} ! short sleep, familial natural, 2 - [Term] id: MONDO:0044279 name: obsolete bone mineral density quantitative trait locus 15 @@ -423947,16 +423945,15 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO: id: MONDO:0044702 name: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome subset: ordo_malformation_syndrome -xref: Orphanet:500188 {source="MONDO:equivalentTo"} +synonym: "deafness, X-linked 7" EXACT [OMIM:301018] +synonym: "deafness, X-linked 7; DFNX7" EXACT [OMIM:301018] +synonym: "DFNX7" EXACT [OMIM:301018] +xref: OMIM:301018 {source="MONDO:equivalentTo"} +xref: Orphanet:500188 {source="MONDO:equivalentTo", source="OMIM:301018"} +xref: UMLS:C4746975 {source="OMIM:301018"} is_a: MONDO:0015502 {source="Orphanet:500188"} ! pinnae and external auditory canal anomaly is_a: MONDO:0019589 {source="Orphanet:500188"} ! syndromic genetic deafness -synonym: "deafness, X-linked 7; DFNX7" EXACT [OMIM:301018] -synonym: "deafness, X-linked 7" EXACT [OMIM:301018] -synonym: "DFNX7" EXACT [OMIM:301018] -xref: UMLS:C4746975 {source="OMIM:301018"} -xref: Orphanet:500188 {source="OMIM:301018"} is_a: MONDO:0020768 {source="MONDO:301018"} ! X-linked deafness -xref: OMIM:301018 {source="MONDO:equivalentTo"} ! deafness, x-linked 7 relationship: has_modifier HP:0001417 ! X-linked inheritance [Term] @@ -428520,29 +428517,10 @@ id: MONDO:0060720 name: congenital disorder of glycosylation with defective fucosylation synonym: "CDGF" RELATED [OMIM:618005] synonym: "congenital disorder of glycosylation with defective fucosylation; CDGF" RELATED [OMIM:618005] -xref: OMIMPS:618005 {source="MONDO:equivalentTo"} ! congenital disorder of glycosylation with defective fucosylation +xref: OMIMPS:618005 {source="MONDO:equivalentTo"} xref: UMLS:CN248517 {source="MONDO:equivalentTo"} is_a: MONDO:0015286 ! congenital disorder of glycosylation -[Term] -id: MONDO:0020775 -name: congenital disorder of glycosylation with defective fucosylation 1 -synonym: "Cdgf" RELATED [OMIM:618005] -synonym: "CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1; CDGF1" RELATED [OMIM:618005] -xref: UMLS:C4693905 {source="OMIM:618005"} -is_a: MONDO:0060720 {source="OMIM:618005"} ! congenital disorder of glycosylation with defective fucosylation -is_a: MONDO:0000001 {source="OMIM:618005"} ! disease or disorder -xref: OMIM:618005 {source="MONDO:equivalentTo"} ! congenital disorder of glycosylation with defective fucosylation 1 - -[Term] -id: MONDO:0020777 -name: congenital disorder of glycosylation with defective fucosylation 2 -synonym: "CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2; CDGF2" RELATED [OMIM:618324] -xref: UMLS:C5193028 {source="OMIM:618324"} -is_a: MONDO:0060720 {source="OMIM:618324"} ! congenital disorder of glycosylation with defective fucosylation -is_a: MONDO:0000001 {source="OMIM:618324"} ! disease or disorder -xref: OMIM:618324 {source="MONDO:equivalentTo"} ! congenital disorder of glycosylation with defective fucosylation 2 - [Term] id: MONDO:0060722 name: obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities @@ -429673,7 +429651,7 @@ created_by: http://orcid.org/0000-0001-5208-3432 id: MONDO:0100106 name: neonatal epileptic encephalopathy def: "A form of age-related epileptic encephalopathy, characterized by the onset of seizures within the first 4 weeks of life that can be generalized or lateralized, independent of the sleep cycle, and that can result in frequent seizures per day, leading to psychomotor impairment and death." [https://clinicalgenome.org/affiliation/40005/] -is_a: MONDO:0005579 {source="https://orcid.org/0000-0001-5208-3432"} ! generalised epilepsy +is_a: MONDO:0005579 {source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy, idiopathic generalized created_by: http://orcid.org/0000-0001-5208-3432 [Term] From f2c173ec65759d16ca0f49d2104093c85a0e724c Mon Sep 17 00:00:00 2001 From: cmungall Date: Tue, 28 Apr 2020 20:39:12 -0700 Subject: [PATCH 09/13] omim-import --- src/ontology/mondo-edit.obo | 212 +++++++++++++++++++++++++++++++++++- 1 file changed, 209 insertions(+), 3 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 9866350c00..d83d967200 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -185272,8 +185272,15 @@ name: Keipert syndrome def: "Keipert syndrome is a rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis." [Orphanet:2662] subset: ordo_malformation_syndrome {source="Orphanet:2662"} synonym: "Keipert syndrome" EXACT [OMIM:255980] -synonym: "NASODIGITOACOUSTIC syndrome" RELATED [OMIM:255980] -synonym: "Nasodigitoacoustic syndrome" EXACT [Orphanet:2662] +synonym: "nasodigitoacoustic syndrome" EXACT [OMIM:255980] +synonym: "nasodigitoacoustic syndrome" EXACT [Orphanet:2662] +synonym: "Keipert syndrome; KPTS" EXACT [OMIM:301026] +synonym: "nasodigitoacoustic syndrome" EXACT [OMIM:301026] +synonym: "nasodigitoacoustic syndrome, formerly" EXACT [OMIM:301026] +xref: UMLS:C1850627 {source="OMIM:301026"} +xref: Orphanet:2662 {source="OMIM:301026"} +is_a: MONDO:0000001 {source="OMIM:301026"} ! disease or disorder +xref: OMIM:301026 {source="MONDO:equivalentTo"} ! keipert syndrome xref: GARD:0000267 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10:Q87.0 {source="Orphanet:2662", source="ORDO:2662/attributed", source="ORDO:2662/ntbt"} xref: MESH:C538337 {source="MONDO:equivalentTo", source="MONDO:ontobio"} @@ -306849,6 +306856,13 @@ xref: ICD10:Q87.8 {source="ORDO:163976/attributed", source="ORDO:163976/ntbt", s xref: Orphanet:163976 {source="MONDO:equivalentTo"} xref: SCTID:718914002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"} xref: UMLS:CN226711 {source="MONDO:equivalentTo"} +synonym: "Mental Retardation, X-Linked, Syndromic, Van Esch-O'Driscoll Type" RELATED [OMIM:301030] +synonym: "VAN ESCH-O'DRISCOLL SYNDROME; VEODS" RELATED [OMIM:301030] +xref: UMLS:C5193012 {source="OMIM:301030"} +xref: Orphanet:163976 {source="OMIM:301030"} +is_a: MONDO:0020119 {source="OMIM:301030"} ! X-linked syndromic intellectual disability +is_a: MONDO:0000001 {source="OMIM:301030"} ! disease or disorder +xref: OMIM:301030 {source="MONDO:equivalentTo"} ! van esch-o'driscoll syndrome is_a: MONDO:0020119 {source="Orphanet:163976"} ! X-linked syndromic intellectual disability relationship: has_modifier MONDO:0021136 {source="MONDO:0015906"} ! rare @@ -359134,12 +359148,26 @@ synonym: "K+-aggravated myotonia" EXACT [Orphanet:612] synonym: "K-aggravated myotonia" EXACT [Orphanet:612] synonym: "PAM" EXACT [Orphanet:612] synonym: "Potassium aggravated myotonia" EXACT [NCIT:C122788] +synonym: "Laryngospasm, Severe Neonatal Episodic" RELATED [OMIM:608390] +synonym: "Myotonia Congenita, Acetazolamide-Responsive" RELATED [OMIM:608390] +synonym: "Myotonia Congenita, Atypical" RELATED [OMIM:608390] +synonym: "Myotonia Fluctuans" RELATED [OMIM:608390] +synonym: "Myotonia Permanens" RELATED [OMIM:608390] +synonym: "MYOTONIA, POTASSIUM-AGGRAVATED" RELATED [OMIM:608390] +synonym: "Sodium Channel Muscle Disease" RELATED [OMIM:608390] +xref: UMLS:C2931826 {source="OMIM:608390"} +xref: UMLS:C3149517 {source="OMIM:608390"} +xref: Orphanet:612 {source="OMIM:608390"} +xref: Orphanet:99734 {source="OMIM:608390"} +xref: Orphanet:99735 {source="OMIM:608390"} +xref: Orphanet:99736 {source="OMIM:608390"} +xref: OMIM:608390 {source="MONDO:equivalentTo"} ! myotonia, potassium-aggravated xref: GARD:0004459 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:G71.1 {source="Orphanet:612", source="ORDO:612/attributed", source="ORDO:612/ntbt"} xref: MESH:C538353 {source="ORDO:612/e", source="Orphanet:612", source="MONDO:equivalentTo"} xref: MONDO:0012026 {source="MONDO:obsoleteEquivalent"} xref: NCIT:C122788 {source="MONDO:kboom-pr-0.84/0.66/0.06", source="MONDO:equivalentTo"} -xref: OMIM:608390 {source="ORDO:612/e", source="Orphanet:612", source="MONDO:superClassOf"} +xref: OMIM:608390 {source="ORDO:612/e", source="Orphanet:612", source="MONDO:equivalentTo"} xref: Orphanet:612 {source="MONDO:equivalentTo"} xref: SCTID:702355008 {source="MONDO:equivalentTo"} xref: UMLS:C0856123 {source="Orphanet:612", source="MONDO:notFoundInDiseaseSubset"} @@ -359147,6 +359175,184 @@ xref: UMLS:C2931826 {source="ORDO:612/e", source="Orphanet:612", source="MONDO:e is_a: MONDO:0016120 {source="Orphanet:612"} ! myotonic syndrome is_a: MONDO:0019119 {source="Orphanet:612"} ! muscular channelopathy + +[Term] +id: MONDO:0026720 +name: mitochondrial complex 1 deficiency, nuclear type 12 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12; MC1DN12" RELATED [OMIM:301020] +xref: UMLS:C4746984 {source="OMIM:301020"} +xref: Orphanet:2609 {source="OMIM:301020"} +is_a: MONDO:0009640 {source="OMIM:301020"} ! mitochondrial complex I deficiency +is_a: MONDO:0000001 {source="OMIM:301020"} ! disease or disorder +xref: OMIM:301020 {source="MONDO:equivalentTo"} ! mitochondrial complex 1 deficiency, nuclear type 12 + +[Term] +id: MONDO:0026721 +name: mitochondrial complex 1 deficiency, nuclear type 30 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30; MC1DN30" RELATED [OMIM:301021] +xref: UMLS:C4746985 {source="OMIM:301021"} +xref: Orphanet:2609 {source="OMIM:301021"} +is_a: MONDO:0009640 {source="OMIM:301021"} ! mitochondrial complex I deficiency +is_a: MONDO:0000001 {source="OMIM:301021"} ! disease or disorder +xref: OMIM:301021 {source="MONDO:equivalentTo"} ! mitochondrial complex 1 deficiency, nuclear type 30 + +[Term] +id: MONDO:0026722 +name: Mullegama-Klein-Martinez syndrome +synonym: "MULLEGAMA-KLEIN-MARTINEZ SYNDROME; MKMS" RELATED [OMIM:301022] +synonym: "Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities" RELATED [OMIM:301022] +xref: UMLS:C5193008 {source="OMIM:301022"} +is_a: MONDO:0000001 {source="OMIM:301022"} ! disease or disorder +xref: OMIM:301022 {source="MONDO:equivalentTo"} ! mullegama-klein-martinez syndrome + +[Term] +id: MONDO:0026723 +name: intellectual developmental disorder, X-linked 108 +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108; MRX108" RELATED [OMIM:301024] +synonym: "Mental Retardation, X-Linked 108" RELATED [OMIM:301024] +xref: UMLS:C5193009 {source="OMIM:301024"} +is_a: MONDO:0019181 {source="OMIM:301024"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0000001 {source="OMIM:301024"} ! disease or disorder +xref: OMIM:301024 {source="MONDO:equivalentTo"} ! intellectual developmental disorder, x-linked 108 + +[Term] +id: MONDO:0026724 +name: Paganini-Miozzo syndrome +synonym: "Mental Retardation, X-Linked, Syndromic, Paganini-Miozzo Type" RELATED [OMIM:301025] +synonym: "PAGANINI-MIOZZO SYNDROME; MRXSPM" RELATED [OMIM:301025] +xref: UMLS:C5193010 {source="OMIM:301025"} +is_a: MONDO:0020119 {source="OMIM:301025"} ! X-linked syndromic intellectual disability +is_a: MONDO:0000001 {source="OMIM:301025"} ! disease or disorder +xref: OMIM:301025 {source="MONDO:equivalentTo"} ! paganini-miozzo syndrome + +[Term] +id: MONDO:0026726 +name: nephrotic syndrome, type 20 +synonym: "NEPHROTIC SYNDROME, TYPE 20; NPHS20" RELATED [OMIM:301028] +xref: UMLS:C5193011 {source="OMIM:301028"} +xref: Orphanet:656 {source="OMIM:301028"} +is_a: MONDO:0002350 {source="OMIM:301028"} ! familial nephrotic syndrome +is_a: MONDO:0000001 {source="OMIM:301028"} ! disease or disorder +xref: OMIM:301028 {source="MONDO:equivalentTo"} ! nephrotic syndrome, type 20 + +[Term] +id: MONDO:0026727 +name: Shukla-Vernon syndrome +synonym: "SHUKLA-VERNON SYNDROME; SHUVER" RELATED [OMIM:301029] +xref: UMLS:C5193146 {source="OMIM:301029"} +is_a: MONDO:0000001 {source="OMIM:301029"} ! disease or disorder +xref: OMIM:301029 {source="MONDO:equivalentTo"} ! shukla-vernon syndrome + +[Term] +id: MONDO:0026729 +name: congenital disorder of glycosylation, type ICC +synonym: "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC" RELATED [OMIM:301031] +is_a: MONDO:0005500 {source="OMIM:301031"} ! congenital disorder of glycosylation type I +is_a: MONDO:0000001 {source="OMIM:301031"} ! disease or disorder +xref: OMIM:301031 {source="MONDO:equivalentTo"} ! congenital disorder of glycosylation, type icc + +[Term] +id: MONDO:0026730 +name: Basilicata-Akhtar syndrome +synonym: "BASILICATA-AKHTAR SYNDROME; MRXSBA" RELATED [OMIM:301032] +synonym: "Mental Retardation, X-Linked, Syndromic 36" RELATED [OMIM:301032] +synonym: "Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type" RELATED [OMIM:301032] +is_a: MONDO:0020119 {source="OMIM:301032"} ! X-linked syndromic intellectual disability +is_a: MONDO:0000001 {source="OMIM:301032"} ! disease or disorder +xref: OMIM:301032 {source="MONDO:equivalentTo"} ! basilicata-akhtar syndrome + +[Term] +id: MONDO:0026731 +name: hypothyroidism, congenital, nongoitrous, 8 +synonym: "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8; CHNG8" RELATED [OMIM:301033] +is_a: MONDO:0000045 {source="OMIM:301033"} ! hypothyroidism, congenital, nongoitrous +is_a: MONDO:0000001 {source="OMIM:301033"} ! disease or disorder +xref: OMIM:301033 {source="MONDO:equivalentTo"} ! hypothyroidism, congenital, nongoitrous, 8 + +[Term] +id: MONDO:0026732 +name: hypothyroidism, congenital, nongoitrous, 9 +synonym: "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9" RELATED [OMIM:301035] +is_a: MONDO:0000045 {source="OMIM:301035"} ! hypothyroidism, congenital, nongoitrous +is_a: MONDO:0000001 {source="OMIM:301035"} ! disease or disorder +xref: OMIM:301035 {source="MONDO:equivalentTo"} ! hypothyroidism, congenital, nongoitrous, 9 + +[Term] +id: MONDO:0026733 +name: intellectual developmental disorder, x-linked, syndromic, hackmann-di donato type +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD" RELATED [OMIM:301039] +synonym: "Mental Retardation, X-Linked, With Marfanoid Habitus, 2" RELATED [OMIM:301039] +is_a: MONDO:0020119 {source="OMIM:301039"} ! X-linked syndromic intellectual disability +is_a: MONDO:0000001 {source="OMIM:301039"} ! disease or disorder +xref: OMIM:301039 {source="MONDO:equivalentTo"} ! intellectual developmental disorder, x-linked, syndromic, hackmann-di donato type + +[Term] +id: MONDO:0026782 +name: chondrodysplasia punctata 2, X-linked dominant +synonym: "Cdpxd" RELATED [OMIM:302960] +synonym: "CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2" RELATED [OMIM:302960] +synonym: "Conradi-Hunermann Syndrome" RELATED [OMIM:302960] +synonym: "Conradi-Hunermann-Happle Syndrome" RELATED [OMIM:302960] +synonym: "Happle Syndrome" RELATED [OMIM:302960] +xref: UMLS:C0282102 {source="OMIM:302960"} +xref: Orphanet:35173 {source="OMIM:302960"} +is_a: MONDO:0000001 {source="OMIM:302960"} ! disease or disorder +xref: OMIM:302960 {source="MONDO:equivalentTo"} ! chondrodysplasia punctata 2, x-linked dominant + +[Term] +id: MONDO:0026856 +name: obsolete homosexuality 1 +is_obsolete: true +synonym: "HOMOSEXUALITY 1; HMS1" RELATED [OMIM:306995] +synonym: "Sexual Orientation, Male" RELATED [OMIM:306995] +xref: UMLS:C1415621 {source="OMIM:306995"} +xref: OMIM:306995 {source="MONDO:obsoleteEquivalent"} ! homosexuality 1 + +[Term] +id: MONDO:0032485 +name: intellectual developmental disorder 61 +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 61; MRD61" RELATED [OMIM:618009] +synonym: "Mental Retardation, Autosomal Dominant 61" RELATED [OMIM:618009] +is_a: MONDO:0015802 {source="OMIM:618009"} ! autosomal dominant non-syndromic intellectual disability +is_a: MONDO:0000001 {source="OMIM:618009"} ! disease or disorder +xref: OMIM:618009 {source="MONDO:equivalentTo"} ! intellectual developmental disorder 61 + +[Term] +id: MONDO:0032526 +name: spinocerebellar ataxia 48 +synonym: "SPINOCEREBELLAR ATAXIA 48; SCA48" RELATED [OMIM:618093] +xref: UMLS:C4748158 {source="OMIM:618093"} +is_a: MONDO:0020380 {source="OMIM:618093"} ! autosomal dominant cerebellar ataxia +is_a: MONDO:0000001 {source="OMIM:618093"} ! disease or disorder +xref: OMIM:618093 {source="MONDO:equivalentTo"} ! spinocerebellar ataxia 48 + +[Term] +id: MONDO:0032564 +name: hennekam lymphangiectasia-lymphedema syndrome 3 +synonym: "HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3" RELATED [OMIM:618154] +xref: UMLS:C4748408 {source="OMIM:618154"} +xref: Orphanet:2136 {source="OMIM:618154"} +is_a: MONDO:0016256 {source="OMIM:618154"} ! Hennekam syndrome +is_a: MONDO:0000001 {source="OMIM:618154"} ! disease or disorder +xref: OMIM:618154 {source="MONDO:equivalentTo"} ! hennekam lymphangiectasia-lymphedema syndrome 3 + +[Term] +id: MONDO:0032565 +name: ophthalmoplegia, external, with rib and vertebral anomalies +synonym: "OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES; EORVA" RELATED [OMIM:618155] +xref: UMLS:C4748418 {source="OMIM:618155"} +is_a: MONDO:0000001 {source="OMIM:618155"} ! disease or disorder +xref: OMIM:618155 {source="MONDO:equivalentTo"} ! ophthalmoplegia, external, with rib and vertebral anomalies + +[Term] +id: MONDO:0032566 +name: squalene synthase deficiency +synonym: "Neurodevelopmental Disorder With Low Cholesterol and Abnormal Urine Organic Acids" RELATED [OMIM:618156] +synonym: "SQUALENE SYNTHASE DEFICIENCY; SQSD" RELATED [OMIM:618156] +xref: UMLS:C4748427 {source="OMIM:618156"} +is_a: MONDO:0019058 {source="MONDO:cjm"} ! neurometabolic disease +xref: OMIM:618156 {source="MONDO:equivalentTo"} ! squalene synthase deficiency + [Term] id: MONDO:0018960 name: congenital primary megaureter From 548116e0ba854ece5cd02b90d81ab4b77c558f7c Mon Sep 17 00:00:00 2001 From: cmungall Date: Tue, 28 Apr 2020 20:43:33 -0700 Subject: [PATCH 10/13] omim-import --- src/ontology/mondo-edit.obo | 86 +++++++++++++++++++++++++++++-------- 1 file changed, 69 insertions(+), 17 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index d83d967200..d645c5f7bd 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -257188,8 +257188,68 @@ property_value: confidence "1.246376811594203" xsd:double [Term] id: MONDO:0013019 -name: spondyloepimetaphyseal dysplasia, Pakistani type -def: "A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence." [DOID:0050812, http://omim.org/entry/612847, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282] +name: obsolete spondyloepimetaphyseal dysplasia, Pakistani type +is_obsolete: true +replaced_by: MONDO:0019666 + + +[Term] +id: MONDO:0032567 +name: isolated growth hormone deficiency, type 4 +synonym: "Dwarfism of Sindh" RELATED [OMIM:618157] +synonym: "Isolated Growth Hormone Deficiency, Type Ib" RELATED [OMIM:618157] +synonym: "Isolated Growth Hormone Deficiency, Type Ib, Formerly" RELATED [OMIM:618157] +synonym: "ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4" RELATED [OMIM:618157] +xref: UMLS:C4722273 {source="OMIM:618157"} +xref: Orphanet:231671 {source="OMIM:618157"} +is_a: MONDO:0000050 {source="OMIM:618157"} ! isolated congenital growth hormone deficiency +is_a: MONDO:0000001 {source="OMIM:618157"} ! disease or disorder +xref: OMIM:618157 {source="MONDO:equivalentTo"} ! isolated growth hormone deficiency, type 4 + +[Term] +id: MONDO:0032568 +name: intellectual developmental disorder with macrocephaly, seizures, and speech delay +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY; IDDMSSD" RELATED [OMIM:618158] +xref: UMLS:C4748428 {source="OMIM:618158"} +is_a: MONDO:0000001 {source="OMIM:618158"} ! disease or disorder +xref: OMIM:618158 {source="MONDO:equivalentTo"} ! intellectual developmental disorder with macrocephaly, seizures, and speech delay + +[Term] +id: MONDO:0032569 +name: isolated growth hormone deficiency, type 5 +synonym: "ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V; IGHD5" RELATED [OMIM:618160] +xref: UMLS:C4748435 {source="OMIM:618160"} +xref: Orphanet:231662 {source="OMIM:618160"} +is_a: MONDO:0000050 {source="OMIM:618160"} ! isolated congenital growth hormone deficiency +is_a: MONDO:0000001 {source="OMIM:618160"} ! disease or disorder +xref: OMIM:618160 {source="MONDO:equivalentTo"} ! isolated growth hormone deficiency, type 5 + +[Term] +id: MONDO:0032570 +name: Joubert syndrome 35 +synonym: "JOUBERT SYNDROME 35; JBTS35" RELATED [OMIM:618161] +xref: UMLS:C4748442 {source="OMIM:618161"} +xref: Orphanet:475 {source="OMIM:618161"} +is_a: MONDO:0018772 {source="OMIM:618161"} ! Joubert syndrome +is_a: MONDO:0000001 {source="OMIM:618161"} ! disease or disorder +xref: OMIM:618161 {source="MONDO:equivalentTo"} ! joubert syndrome 35 + +[Term] +id: MONDO:0032571 +name: spondyloepimetaphyseal dysplasia, Krakow type +synonym: "Immunoosseous Dysplasia, Krakow Type" RELATED [OMIM:618162] +synonym: "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK" RELATED [OMIM:618162] +xref: UMLS:C4748455 {source="OMIM:618162"} +is_a: MONDO:0000001 {source="OMIM:618162"} ! disease or disorder +is_a: MONDO:0016761 {source="MONDO:cjm"} ! spondylo-epi-(meta)-physeal dysplasia +xref: OMIM:618162 {source="MONDO:equivalentTo"} ! spondyloepimetaphyseal dysplasia, krakow type + +[Term] +id: MONDO:0019666 +name: spondyloepimetaphyseal dysplasia, PAPSS2 type +def: "Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence." [Orphanet:93282] +subset: ordo_disease {source="Orphanet:93282"} +synonym: "spondyloepimetaphyseal dysplasia, Pakistani type" EXACT [Orphanet:93282] synonym: "BCYM4" RELATED [MONDO:Lexical, OMIM:612847] synonym: "brachyolmia type 4 with mild epiphyseal and metaphyseal changes" RELATED [MONDO:Lexical, OMIM:612847] synonym: "brachyolmia type 4 with mild epiphyseal and metaphyseal changes; BCYM4" RELATED [OMIM:612847] @@ -257206,6 +257266,13 @@ xref: UMLS:C2748516 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:612847 is_a: MONDO:0003847 {source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0016761 {source="DOID:0050812", source="linkedlifedata"} ! spondylo-epi-(meta)-physeal dysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8604 {source="mim2gene_medgen"} ! PAPSS2 +xref: ICD10:Q77.7 {source="ORDO:93282/attributed", source="ORDO:93282/ntbt", source="Orphanet:93282"} +xref: OMIM:612847 {source="MONDO:subClassOf", source="ORDO:93282/ntbt", source="Orphanet:93282"} +xref: Orphanet:93282 {source="MONDO:equivalentTo"} +xref: UMLS:C2748515 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93282"} +is_a: MONDO:0016761 {source="Orphanet:93282"} ! spondylo-epi-(meta)-physeal dysplasia +is_a: MONDO:0019688 {source="Orphanet:93282"} ! sulfation-related bone disorder +property_value: confidence "0.3484848484848486" xsd:double [Term] id: MONDO:0013020 @@ -373315,21 +373382,6 @@ xref: SCTID:89859004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0 xref: UMLS:C0016064 {source="ORDO:93277/e", source="Orphanet:93277", source="MONDO:equivalentTo", source="NCIT:C53971"} is_a: MONDO:0016640 {source="MESH:D005358", source="Orphanet:93277", source="linkedlifedata"} ! fibrous dysplasia of bone -[Term] -id: MONDO:0019666 -name: spondyloepimetaphyseal dysplasia, PAPSS2 type -def: "Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence." [Orphanet:93282] -subset: ordo_disease {source="Orphanet:93282"} -synonym: "spondyloepimetaphyseal dysplasia, Pakistani type" EXACT [Orphanet:93282] -xref: ICD10:Q77.7 {source="ORDO:93282/attributed", source="ORDO:93282/ntbt", source="Orphanet:93282"} -xref: OMIM:612847 {source="MONDO:subClassOf", source="ORDO:93282/ntbt", source="Orphanet:93282"} -xref: Orphanet:93282 {source="MONDO:equivalentTo"} -xref: UMLS:C2748515 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93282"} -is_a: MONDO:0013019 {source="MONDOLEX:0019666"} ! spondyloepimetaphyseal dysplasia, Pakistani type -is_a: MONDO:0016761 {source="Orphanet:93282"} ! spondylo-epi-(meta)-physeal dysplasia -is_a: MONDO:0019688 {source="Orphanet:93282"} ! sulfation-related bone disorder -property_value: confidence "0.3484848484848486" xsd:double - [Term] id: MONDO:0019667 name: spondyloepiphyseal dysplasia tarda From eb5e14bb9bcd1896ff37d4e3732e09f359c70aee Mon Sep 17 00:00:00 2001 From: cmungall Date: Tue, 28 Apr 2020 21:12:27 -0700 Subject: [PATCH 11/13] norm --- src/ontology/mondo-edit.obo | 3578 ++++++++++++++++++++++++++++++++--- 1 file changed, 3277 insertions(+), 301 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index d645c5f7bd..ae08dbb2d1 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -185272,22 +185272,18 @@ name: Keipert syndrome def: "Keipert syndrome is a rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis." [Orphanet:2662] subset: ordo_malformation_syndrome {source="Orphanet:2662"} synonym: "Keipert syndrome" EXACT [OMIM:255980] -synonym: "nasodigitoacoustic syndrome" EXACT [OMIM:255980] -synonym: "nasodigitoacoustic syndrome" EXACT [Orphanet:2662] -synonym: "Keipert syndrome; KPTS" EXACT [OMIM:301026] -synonym: "nasodigitoacoustic syndrome" EXACT [OMIM:301026] -synonym: "nasodigitoacoustic syndrome, formerly" EXACT [OMIM:301026] -xref: UMLS:C1850627 {source="OMIM:301026"} -xref: Orphanet:2662 {source="OMIM:301026"} -is_a: MONDO:0000001 {source="OMIM:301026"} ! disease or disorder -xref: OMIM:301026 {source="MONDO:equivalentTo"} ! keipert syndrome +synonym: "Keipert syndrome; KPTS" EXACT [OMIM:301026] +synonym: "nasodigitoacoustic syndrome" EXACT [OMIM:255980, OMIM:301026, Orphanet:2662] +synonym: "nasodigitoacoustic syndrome, formerly" EXACT [OMIM:301026] xref: GARD:0000267 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10:Q87.0 {source="Orphanet:2662", source="ORDO:2662/attributed", source="ORDO:2662/ntbt"} xref: MESH:C538337 {source="MONDO:equivalentTo", source="MONDO:ontobio"} xref: OMIM:255980 {source="ORDO:2662/e", source="Orphanet:2662", source="MONDO:equivalentTo"} -xref: Orphanet:2662 {source="MONDO:equivalentTo", source="OMIM:255980"} +xref: OMIM:301026 {source="MONDO:equivalentTo"} +xref: Orphanet:2662 {source="MONDO:equivalentTo", source="OMIM:301026", source="OMIM:255980"} xref: SCTID:763774001 {source="MONDO:equivalentTo"} -xref: UMLS:C1850627 {source="ORDO:2662/e", source="Orphanet:2662", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:255980", source="MEDGEN:kboom-pr92-c96"} +xref: UMLS:C1850627 {source="ORDO:2662/e", source="Orphanet:2662", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:301026", source="OMIM:255980", source="MEDGEN:kboom-pr92-c96"} +is_a: MONDO:0000001 {source="OMIM:301026"} ! disease or disorder is_a: MONDO:0015161 {source="Orphanet:2662", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="Orphanet:2662", source="Orphanet:2662/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0043008 {source="Orphanet:2662"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -257192,88 +257188,6 @@ name: obsolete spondyloepimetaphyseal dysplasia, Pakistani type is_obsolete: true replaced_by: MONDO:0019666 - -[Term] -id: MONDO:0032567 -name: isolated growth hormone deficiency, type 4 -synonym: "Dwarfism of Sindh" RELATED [OMIM:618157] -synonym: "Isolated Growth Hormone Deficiency, Type Ib" RELATED [OMIM:618157] -synonym: "Isolated Growth Hormone Deficiency, Type Ib, Formerly" RELATED [OMIM:618157] -synonym: "ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4" RELATED [OMIM:618157] -xref: UMLS:C4722273 {source="OMIM:618157"} -xref: Orphanet:231671 {source="OMIM:618157"} -is_a: MONDO:0000050 {source="OMIM:618157"} ! isolated congenital growth hormone deficiency -is_a: MONDO:0000001 {source="OMIM:618157"} ! disease or disorder -xref: OMIM:618157 {source="MONDO:equivalentTo"} ! isolated growth hormone deficiency, type 4 - -[Term] -id: MONDO:0032568 -name: intellectual developmental disorder with macrocephaly, seizures, and speech delay -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY; IDDMSSD" RELATED [OMIM:618158] -xref: UMLS:C4748428 {source="OMIM:618158"} -is_a: MONDO:0000001 {source="OMIM:618158"} ! disease or disorder -xref: OMIM:618158 {source="MONDO:equivalentTo"} ! intellectual developmental disorder with macrocephaly, seizures, and speech delay - -[Term] -id: MONDO:0032569 -name: isolated growth hormone deficiency, type 5 -synonym: "ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V; IGHD5" RELATED [OMIM:618160] -xref: UMLS:C4748435 {source="OMIM:618160"} -xref: Orphanet:231662 {source="OMIM:618160"} -is_a: MONDO:0000050 {source="OMIM:618160"} ! isolated congenital growth hormone deficiency -is_a: MONDO:0000001 {source="OMIM:618160"} ! disease or disorder -xref: OMIM:618160 {source="MONDO:equivalentTo"} ! isolated growth hormone deficiency, type 5 - -[Term] -id: MONDO:0032570 -name: Joubert syndrome 35 -synonym: "JOUBERT SYNDROME 35; JBTS35" RELATED [OMIM:618161] -xref: UMLS:C4748442 {source="OMIM:618161"} -xref: Orphanet:475 {source="OMIM:618161"} -is_a: MONDO:0018772 {source="OMIM:618161"} ! Joubert syndrome -is_a: MONDO:0000001 {source="OMIM:618161"} ! disease or disorder -xref: OMIM:618161 {source="MONDO:equivalentTo"} ! joubert syndrome 35 - -[Term] -id: MONDO:0032571 -name: spondyloepimetaphyseal dysplasia, Krakow type -synonym: "Immunoosseous Dysplasia, Krakow Type" RELATED [OMIM:618162] -synonym: "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK" RELATED [OMIM:618162] -xref: UMLS:C4748455 {source="OMIM:618162"} -is_a: MONDO:0000001 {source="OMIM:618162"} ! disease or disorder -is_a: MONDO:0016761 {source="MONDO:cjm"} ! spondylo-epi-(meta)-physeal dysplasia -xref: OMIM:618162 {source="MONDO:equivalentTo"} ! spondyloepimetaphyseal dysplasia, krakow type - -[Term] -id: MONDO:0019666 -name: spondyloepimetaphyseal dysplasia, PAPSS2 type -def: "Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence." [Orphanet:93282] -subset: ordo_disease {source="Orphanet:93282"} -synonym: "spondyloepimetaphyseal dysplasia, Pakistani type" EXACT [Orphanet:93282] -synonym: "BCYM4" RELATED [MONDO:Lexical, OMIM:612847] -synonym: "brachyolmia type 4 with mild epiphyseal and metaphyseal changes" RELATED [MONDO:Lexical, OMIM:612847] -synonym: "brachyolmia type 4 with mild epiphyseal and metaphyseal changes; BCYM4" RELATED [OMIM:612847] -synonym: "SEMD, Pakistani type" RELATED [OMIM:612847] -synonym: "spondylodysplasia and premature pubarche" RELATED [OMIM:612847] -synonym: "spondyloepimetaphyseal dysplasia Pakistani type" EXACT [DOID:0050812] -synonym: "spondyloepimetaphyseal dysplasia, Pakistani type" EXACT [OMIM:612847] -xref: DOID:0050812 {source="MONDO:equivalentTo"} -xref: OMIM:612847 {source="MONDO:equivalentTo", source="DOID:0050812"} -xref: Orphanet:93282 {source="MONDO:superClassOf", source="OMIM:612847"} -xref: SCTID:719172003 {source="MONDO:equivalentTo"} -xref: UMLS:C2748515 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612847"} -xref: UMLS:C2748516 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:612847"} -is_a: MONDO:0003847 {source="linkedlifedata/inferred"} ! inherited genetic disease -is_a: MONDO:0016761 {source="DOID:0050812", source="linkedlifedata"} ! spondylo-epi-(meta)-physeal dysplasia -relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8604 {source="mim2gene_medgen"} ! PAPSS2 -xref: ICD10:Q77.7 {source="ORDO:93282/attributed", source="ORDO:93282/ntbt", source="Orphanet:93282"} -xref: OMIM:612847 {source="MONDO:subClassOf", source="ORDO:93282/ntbt", source="Orphanet:93282"} -xref: Orphanet:93282 {source="MONDO:equivalentTo"} -xref: UMLS:C2748515 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93282"} -is_a: MONDO:0016761 {source="Orphanet:93282"} ! spondylo-epi-(meta)-physeal dysplasia -is_a: MONDO:0019688 {source="Orphanet:93282"} ! sulfation-related bone disorder -property_value: confidence "0.3484848484848486" xsd:double - [Term] id: MONDO:0013020 name: narcolepsy 5, susceptibility to @@ -306919,18 +306833,16 @@ id: MONDO:0015601 name: X-linked intellectual disability, van Esch type def: "X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." [Orphanet:163976] subset: ordo_malformation_syndrome {source="Orphanet:163976"} +synonym: "Mental Retardation, X-Linked, Syndromic, Van Esch-O'Driscoll Type" RELATED [OMIM:301030] +synonym: "VAN ESCH-O'DRISCOLL SYNDROME; VEODS" RELATED [OMIM:301030] xref: ICD10:Q87.8 {source="ORDO:163976/attributed", source="ORDO:163976/ntbt", source="Orphanet:163976"} -xref: Orphanet:163976 {source="MONDO:equivalentTo"} +xref: OMIM:301030 {source="MONDO:equivalentTo"} +xref: Orphanet:163976 {source="OMIM:301030", source="MONDO:equivalentTo"} xref: SCTID:718914002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.58"} -xref: UMLS:CN226711 {source="MONDO:equivalentTo"} -synonym: "Mental Retardation, X-Linked, Syndromic, Van Esch-O'Driscoll Type" RELATED [OMIM:301030] -synonym: "VAN ESCH-O'DRISCOLL SYNDROME; VEODS" RELATED [OMIM:301030] xref: UMLS:C5193012 {source="OMIM:301030"} -xref: Orphanet:163976 {source="OMIM:301030"} -is_a: MONDO:0020119 {source="OMIM:301030"} ! X-linked syndromic intellectual disability +xref: UMLS:CN226711 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="OMIM:301030"} ! disease or disorder -xref: OMIM:301030 {source="MONDO:equivalentTo"} ! van esch-o'driscoll syndrome -is_a: MONDO:0020119 {source="Orphanet:163976"} ! X-linked syndromic intellectual disability +is_a: MONDO:0020119 {source="OMIM:301030", source="Orphanet:163976"} ! X-linked syndromic intellectual disability relationship: has_modifier MONDO:0021136 {source="MONDO:0015906"} ! rare [Term] @@ -353751,8 +353663,12 @@ property_value: confidence "0.10578651685393292" xsd:double id: MONDO:0018657 name: pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome subset: ordo_disease {source="Orphanet:447961"} -xref: Orphanet:447961 {source="MONDO:equivalentTo"} +synonym: "CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA; CAPOK" RELATED [OMIM:618373] +xref: OMIM:618373 {source="MONDO:equivalentTo"} +xref: Orphanet:447961 {source="MONDO:equivalentTo", source="OMIM:618373"} +xref: UMLS:C5193062 {source="OMIM:618373"} xref: UMLS:CN237716 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618373"} ! inherited genetic disease is_a: MONDO:0015356 {source="Orphanet:447961"} ! hereditary neoplastic syndrome is_a: MONDO:0017671 {source="Orphanet:447961"} ! autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature is_a: MONDO:0019183 {source="Orphanet:447961"} ! inherited odontologic disease @@ -355697,9 +355613,13 @@ is_a: MONDO:0016221 {source="Orphanet:477781"} ! temporomandibular joint anomaly id: MONDO:0018794 name: cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder subset: ordo_disease {source="Orphanet:477787"} +synonym: "GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP" RELATED [OMIM:618372] +synonym: "Phospholipase A2, Group Iva, Deficiency of" RELATED [OMIM:618372] synonym: "PLA2G4A-related platelet dysfunction" EXACT [Orphanet:477787] synonym: "platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency" EXACT [Orphanet:477787] -xref: Orphanet:477787 {source="MONDO:equivalentTo"} +xref: OMIM:618372 {source="MONDO:equivalentTo"} +xref: Orphanet:477787 {source="MONDO:equivalentTo", source="OMIM:618372"} +xref: UMLS:C5193061 {source="OMIM:618372"} xref: UMLS:CN776897 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr87-c94"} is_a: MONDO:0005020 {source="Orphanet:477787"} ! intestinal disease is_a: MONDO:0017142 {source="Orphanet:477787"} ! hemorrhagic disorder due to a qualitative platelet defect @@ -359213,213 +359133,32 @@ def: "Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting subset: ordo_group_of_disorders {source="Orphanet:612"} synonym: "K+-aggravated myotonia" EXACT [Orphanet:612] synonym: "K-aggravated myotonia" EXACT [Orphanet:612] +synonym: "Laryngospasm, Severe Neonatal Episodic" RELATED [OMIM:608390] +synonym: "Myotonia Congenita, Acetazolamide-Responsive" RELATED [OMIM:608390] +synonym: "Myotonia Congenita, Atypical" RELATED [OMIM:608390] +synonym: "Myotonia Fluctuans" RELATED [OMIM:608390] +synonym: "Myotonia Permanens" RELATED [OMIM:608390] +synonym: "MYOTONIA, POTASSIUM-AGGRAVATED" RELATED [OMIM:608390] synonym: "PAM" EXACT [Orphanet:612] synonym: "Potassium aggravated myotonia" EXACT [NCIT:C122788] -synonym: "Laryngospasm, Severe Neonatal Episodic" RELATED [OMIM:608390] -synonym: "Myotonia Congenita, Acetazolamide-Responsive" RELATED [OMIM:608390] -synonym: "Myotonia Congenita, Atypical" RELATED [OMIM:608390] -synonym: "Myotonia Fluctuans" RELATED [OMIM:608390] -synonym: "Myotonia Permanens" RELATED [OMIM:608390] -synonym: "MYOTONIA, POTASSIUM-AGGRAVATED" RELATED [OMIM:608390] -synonym: "Sodium Channel Muscle Disease" RELATED [OMIM:608390] -xref: UMLS:C2931826 {source="OMIM:608390"} -xref: UMLS:C3149517 {source="OMIM:608390"} -xref: Orphanet:612 {source="OMIM:608390"} -xref: Orphanet:99734 {source="OMIM:608390"} -xref: Orphanet:99735 {source="OMIM:608390"} -xref: Orphanet:99736 {source="OMIM:608390"} -xref: OMIM:608390 {source="MONDO:equivalentTo"} ! myotonia, potassium-aggravated +synonym: "Sodium Channel Muscle Disease" RELATED [OMIM:608390] xref: GARD:0004459 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:G71.1 {source="Orphanet:612", source="ORDO:612/attributed", source="ORDO:612/ntbt"} xref: MESH:C538353 {source="ORDO:612/e", source="Orphanet:612", source="MONDO:equivalentTo"} xref: MONDO:0012026 {source="MONDO:obsoleteEquivalent"} xref: NCIT:C122788 {source="MONDO:kboom-pr-0.84/0.66/0.06", source="MONDO:equivalentTo"} xref: OMIM:608390 {source="ORDO:612/e", source="Orphanet:612", source="MONDO:equivalentTo"} -xref: Orphanet:612 {source="MONDO:equivalentTo"} +xref: Orphanet:612 {source="OMIM:608390", source="MONDO:equivalentTo"} +xref: Orphanet:99734 {source="OMIM:608390"} +xref: Orphanet:99735 {source="OMIM:608390"} +xref: Orphanet:99736 {source="OMIM:608390"} xref: SCTID:702355008 {source="MONDO:equivalentTo"} xref: UMLS:C0856123 {source="Orphanet:612", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931826 {source="ORDO:612/e", source="Orphanet:612", source="MONDO:equivalentTo", source="NCIT:C122788"} +xref: UMLS:C2931826 {source="ORDO:612/e", source="OMIM:608390", source="Orphanet:612", source="MONDO:equivalentTo", source="NCIT:C122788"} +xref: UMLS:C3149517 {source="OMIM:608390"} is_a: MONDO:0016120 {source="Orphanet:612"} ! myotonic syndrome is_a: MONDO:0019119 {source="Orphanet:612"} ! muscular channelopathy - -[Term] -id: MONDO:0026720 -name: mitochondrial complex 1 deficiency, nuclear type 12 -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12; MC1DN12" RELATED [OMIM:301020] -xref: UMLS:C4746984 {source="OMIM:301020"} -xref: Orphanet:2609 {source="OMIM:301020"} -is_a: MONDO:0009640 {source="OMIM:301020"} ! mitochondrial complex I deficiency -is_a: MONDO:0000001 {source="OMIM:301020"} ! disease or disorder -xref: OMIM:301020 {source="MONDO:equivalentTo"} ! mitochondrial complex 1 deficiency, nuclear type 12 - -[Term] -id: MONDO:0026721 -name: mitochondrial complex 1 deficiency, nuclear type 30 -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30; MC1DN30" RELATED [OMIM:301021] -xref: UMLS:C4746985 {source="OMIM:301021"} -xref: Orphanet:2609 {source="OMIM:301021"} -is_a: MONDO:0009640 {source="OMIM:301021"} ! mitochondrial complex I deficiency -is_a: MONDO:0000001 {source="OMIM:301021"} ! disease or disorder -xref: OMIM:301021 {source="MONDO:equivalentTo"} ! mitochondrial complex 1 deficiency, nuclear type 30 - -[Term] -id: MONDO:0026722 -name: Mullegama-Klein-Martinez syndrome -synonym: "MULLEGAMA-KLEIN-MARTINEZ SYNDROME; MKMS" RELATED [OMIM:301022] -synonym: "Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities" RELATED [OMIM:301022] -xref: UMLS:C5193008 {source="OMIM:301022"} -is_a: MONDO:0000001 {source="OMIM:301022"} ! disease or disorder -xref: OMIM:301022 {source="MONDO:equivalentTo"} ! mullegama-klein-martinez syndrome - -[Term] -id: MONDO:0026723 -name: intellectual developmental disorder, X-linked 108 -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108; MRX108" RELATED [OMIM:301024] -synonym: "Mental Retardation, X-Linked 108" RELATED [OMIM:301024] -xref: UMLS:C5193009 {source="OMIM:301024"} -is_a: MONDO:0019181 {source="OMIM:301024"} ! non-syndromic X-linked intellectual disability -is_a: MONDO:0000001 {source="OMIM:301024"} ! disease or disorder -xref: OMIM:301024 {source="MONDO:equivalentTo"} ! intellectual developmental disorder, x-linked 108 - -[Term] -id: MONDO:0026724 -name: Paganini-Miozzo syndrome -synonym: "Mental Retardation, X-Linked, Syndromic, Paganini-Miozzo Type" RELATED [OMIM:301025] -synonym: "PAGANINI-MIOZZO SYNDROME; MRXSPM" RELATED [OMIM:301025] -xref: UMLS:C5193010 {source="OMIM:301025"} -is_a: MONDO:0020119 {source="OMIM:301025"} ! X-linked syndromic intellectual disability -is_a: MONDO:0000001 {source="OMIM:301025"} ! disease or disorder -xref: OMIM:301025 {source="MONDO:equivalentTo"} ! paganini-miozzo syndrome - -[Term] -id: MONDO:0026726 -name: nephrotic syndrome, type 20 -synonym: "NEPHROTIC SYNDROME, TYPE 20; NPHS20" RELATED [OMIM:301028] -xref: UMLS:C5193011 {source="OMIM:301028"} -xref: Orphanet:656 {source="OMIM:301028"} -is_a: MONDO:0002350 {source="OMIM:301028"} ! familial nephrotic syndrome -is_a: MONDO:0000001 {source="OMIM:301028"} ! disease or disorder -xref: OMIM:301028 {source="MONDO:equivalentTo"} ! nephrotic syndrome, type 20 - -[Term] -id: MONDO:0026727 -name: Shukla-Vernon syndrome -synonym: "SHUKLA-VERNON SYNDROME; SHUVER" RELATED [OMIM:301029] -xref: UMLS:C5193146 {source="OMIM:301029"} -is_a: MONDO:0000001 {source="OMIM:301029"} ! disease or disorder -xref: OMIM:301029 {source="MONDO:equivalentTo"} ! shukla-vernon syndrome - -[Term] -id: MONDO:0026729 -name: congenital disorder of glycosylation, type ICC -synonym: "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC" RELATED [OMIM:301031] -is_a: MONDO:0005500 {source="OMIM:301031"} ! congenital disorder of glycosylation type I -is_a: MONDO:0000001 {source="OMIM:301031"} ! disease or disorder -xref: OMIM:301031 {source="MONDO:equivalentTo"} ! congenital disorder of glycosylation, type icc - -[Term] -id: MONDO:0026730 -name: Basilicata-Akhtar syndrome -synonym: "BASILICATA-AKHTAR SYNDROME; MRXSBA" RELATED [OMIM:301032] -synonym: "Mental Retardation, X-Linked, Syndromic 36" RELATED [OMIM:301032] -synonym: "Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type" RELATED [OMIM:301032] -is_a: MONDO:0020119 {source="OMIM:301032"} ! X-linked syndromic intellectual disability -is_a: MONDO:0000001 {source="OMIM:301032"} ! disease or disorder -xref: OMIM:301032 {source="MONDO:equivalentTo"} ! basilicata-akhtar syndrome - -[Term] -id: MONDO:0026731 -name: hypothyroidism, congenital, nongoitrous, 8 -synonym: "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8; CHNG8" RELATED [OMIM:301033] -is_a: MONDO:0000045 {source="OMIM:301033"} ! hypothyroidism, congenital, nongoitrous -is_a: MONDO:0000001 {source="OMIM:301033"} ! disease or disorder -xref: OMIM:301033 {source="MONDO:equivalentTo"} ! hypothyroidism, congenital, nongoitrous, 8 - -[Term] -id: MONDO:0026732 -name: hypothyroidism, congenital, nongoitrous, 9 -synonym: "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9" RELATED [OMIM:301035] -is_a: MONDO:0000045 {source="OMIM:301035"} ! hypothyroidism, congenital, nongoitrous -is_a: MONDO:0000001 {source="OMIM:301035"} ! disease or disorder -xref: OMIM:301035 {source="MONDO:equivalentTo"} ! hypothyroidism, congenital, nongoitrous, 9 - -[Term] -id: MONDO:0026733 -name: intellectual developmental disorder, x-linked, syndromic, hackmann-di donato type -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD" RELATED [OMIM:301039] -synonym: "Mental Retardation, X-Linked, With Marfanoid Habitus, 2" RELATED [OMIM:301039] -is_a: MONDO:0020119 {source="OMIM:301039"} ! X-linked syndromic intellectual disability -is_a: MONDO:0000001 {source="OMIM:301039"} ! disease or disorder -xref: OMIM:301039 {source="MONDO:equivalentTo"} ! intellectual developmental disorder, x-linked, syndromic, hackmann-di donato type - -[Term] -id: MONDO:0026782 -name: chondrodysplasia punctata 2, X-linked dominant -synonym: "Cdpxd" RELATED [OMIM:302960] -synonym: "CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2" RELATED [OMIM:302960] -synonym: "Conradi-Hunermann Syndrome" RELATED [OMIM:302960] -synonym: "Conradi-Hunermann-Happle Syndrome" RELATED [OMIM:302960] -synonym: "Happle Syndrome" RELATED [OMIM:302960] -xref: UMLS:C0282102 {source="OMIM:302960"} -xref: Orphanet:35173 {source="OMIM:302960"} -is_a: MONDO:0000001 {source="OMIM:302960"} ! disease or disorder -xref: OMIM:302960 {source="MONDO:equivalentTo"} ! chondrodysplasia punctata 2, x-linked dominant - -[Term] -id: MONDO:0026856 -name: obsolete homosexuality 1 -is_obsolete: true -synonym: "HOMOSEXUALITY 1; HMS1" RELATED [OMIM:306995] -synonym: "Sexual Orientation, Male" RELATED [OMIM:306995] -xref: UMLS:C1415621 {source="OMIM:306995"} -xref: OMIM:306995 {source="MONDO:obsoleteEquivalent"} ! homosexuality 1 - -[Term] -id: MONDO:0032485 -name: intellectual developmental disorder 61 -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 61; MRD61" RELATED [OMIM:618009] -synonym: "Mental Retardation, Autosomal Dominant 61" RELATED [OMIM:618009] -is_a: MONDO:0015802 {source="OMIM:618009"} ! autosomal dominant non-syndromic intellectual disability -is_a: MONDO:0000001 {source="OMIM:618009"} ! disease or disorder -xref: OMIM:618009 {source="MONDO:equivalentTo"} ! intellectual developmental disorder 61 - -[Term] -id: MONDO:0032526 -name: spinocerebellar ataxia 48 -synonym: "SPINOCEREBELLAR ATAXIA 48; SCA48" RELATED [OMIM:618093] -xref: UMLS:C4748158 {source="OMIM:618093"} -is_a: MONDO:0020380 {source="OMIM:618093"} ! autosomal dominant cerebellar ataxia -is_a: MONDO:0000001 {source="OMIM:618093"} ! disease or disorder -xref: OMIM:618093 {source="MONDO:equivalentTo"} ! spinocerebellar ataxia 48 - -[Term] -id: MONDO:0032564 -name: hennekam lymphangiectasia-lymphedema syndrome 3 -synonym: "HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3" RELATED [OMIM:618154] -xref: UMLS:C4748408 {source="OMIM:618154"} -xref: Orphanet:2136 {source="OMIM:618154"} -is_a: MONDO:0016256 {source="OMIM:618154"} ! Hennekam syndrome -is_a: MONDO:0000001 {source="OMIM:618154"} ! disease or disorder -xref: OMIM:618154 {source="MONDO:equivalentTo"} ! hennekam lymphangiectasia-lymphedema syndrome 3 - -[Term] -id: MONDO:0032565 -name: ophthalmoplegia, external, with rib and vertebral anomalies -synonym: "OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES; EORVA" RELATED [OMIM:618155] -xref: UMLS:C4748418 {source="OMIM:618155"} -is_a: MONDO:0000001 {source="OMIM:618155"} ! disease or disorder -xref: OMIM:618155 {source="MONDO:equivalentTo"} ! ophthalmoplegia, external, with rib and vertebral anomalies - -[Term] -id: MONDO:0032566 -name: squalene synthase deficiency -synonym: "Neurodevelopmental Disorder With Low Cholesterol and Abnormal Urine Organic Acids" RELATED [OMIM:618156] -synonym: "SQUALENE SYNTHASE DEFICIENCY; SQSD" RELATED [OMIM:618156] -xref: UMLS:C4748427 {source="OMIM:618156"} -is_a: MONDO:0019058 {source="MONDO:cjm"} ! neurometabolic disease -xref: OMIM:618156 {source="MONDO:equivalentTo"} ! squalene synthase deficiency - [Term] id: MONDO:0018960 name: congenital primary megaureter @@ -369751,6 +369490,7 @@ synonym: "subcutaneous panniculitic T-cell lymphoma" EXACT [Orphanet:86884] synonym: "subcutaneous panniculitis-like T-cell lymphoma" EXACT [MONDO:0006433] synonym: "subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type)" EXACT [NCIT:C6918] synonym: "subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type" EXACT [NCIT:C6918] +synonym: "T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE; SPTCL" RELATED [OMIM:618398] xref: EFO:1000552 {source="MONDO:equivalentTo"} xref: GARD:0010193 {source="MONDO:equivalentTo"} xref: ICD10:C83.6 {source="Orphanet:86884", source="ORDO:86884/e"} @@ -369759,10 +369499,12 @@ xref: ICD9:202.70 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9708/3 {source="NCIT:C6918"} xref: MESH:C537503 {source="Orphanet:86884", source="MONDO:equivalentTo", source="ORDO:86884/e"} xref: NCIT:C6918 {source="MONDO:equivalentTo", source="EFO:1000552"} +xref: OMIM:618398 {source="MONDO:equivalentTo"} xref: ONCOTREE:SPTCL {source="MONDO:equivalentTo"} -xref: Orphanet:86884 {source="MONDO:equivalentTo"} +xref: Orphanet:86884 {source="MONDO:equivalentTo", source="OMIM:618398"} xref: SCTID:404133000 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"} -xref: UMLS:C0522624 {source="NCIT:C6918", source="Orphanet:86884", source="MONDO:equivalentTo"} +xref: UMLS:C0522624 {source="NCIT:C6918", source="Orphanet:86884", source="MONDO:equivalentTo", source="OMIM:618398"} +is_a: MONDO:0003847 {source="OMIM:618398"} ! inherited genetic disease is_a: MONDO:0005062 {source="EFO:1000552", source="MESH:C537503/inferred", source="MONDO:Redundant", source="NCIT:C6918/inferred", source="Orphanet:86884/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lymphoma is_a: MONDO:0015816 {source="Orphanet:86884"} ! indolent primary cutaneous T-cell lymphoma relationship: disease_has_location CL:0000084 {source="EFO:0000784"} ! T cell @@ -373382,6 +373124,31 @@ xref: SCTID:89859004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0 xref: UMLS:C0016064 {source="ORDO:93277/e", source="Orphanet:93277", source="MONDO:equivalentTo", source="NCIT:C53971"} is_a: MONDO:0016640 {source="MESH:D005358", source="Orphanet:93277", source="linkedlifedata"} ! fibrous dysplasia of bone +[Term] +id: MONDO:0019666 +name: spondyloepimetaphyseal dysplasia, PAPSS2 type +def: "Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence." [Orphanet:93282] +subset: ordo_disease {source="Orphanet:93282"} +synonym: "BCYM4" RELATED [MONDO:Lexical, OMIM:612847] +synonym: "brachyolmia type 4 with mild epiphyseal and metaphyseal changes" RELATED [MONDO:Lexical, OMIM:612847] +synonym: "brachyolmia type 4 with mild epiphyseal and metaphyseal changes; BCYM4" RELATED [OMIM:612847] +synonym: "SEMD, Pakistani type" RELATED [OMIM:612847] +synonym: "spondylodysplasia and premature pubarche" RELATED [OMIM:612847] +synonym: "spondyloepimetaphyseal dysplasia Pakistani type" EXACT [DOID:0050812] +synonym: "spondyloepimetaphyseal dysplasia, Pakistani type" EXACT [OMIM:612847, Orphanet:93282] +xref: DOID:0050812 {source="MONDO:equivalentTo"} +xref: ICD10:Q77.7 {source="ORDO:93282/attributed", source="ORDO:93282/ntbt", source="Orphanet:93282"} +xref: OMIM:612847 {source="MONDO:subClassOf", source="ORDO:93282/ntbt", source="MONDO:equivalentTo", source="DOID:0050812", source="Orphanet:93282"} +xref: Orphanet:93282 {source="MONDO:equivalentTo", source="MONDO:superClassOf", source="OMIM:612847"} +xref: SCTID:719172003 {source="MONDO:equivalentTo"} +xref: UMLS:C2748515 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612847", source="Orphanet:93282"} +xref: UMLS:C2748516 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:612847"} +is_a: MONDO:0003847 {source="linkedlifedata/inferred"} ! inherited genetic disease +is_a: MONDO:0016761 {source="DOID:0050812", source="Orphanet:93282", source="linkedlifedata"} ! spondylo-epi-(meta)-physeal dysplasia +is_a: MONDO:0019688 {source="Orphanet:93282"} ! sulfation-related bone disorder +relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8604 {source="mim2gene_medgen"} ! PAPSS2 +property_value: confidence "0.3484848484848486" xsd:double + [Term] id: MONDO:0019667 name: spondyloepiphyseal dysplasia tarda @@ -400743,11 +400510,14 @@ name: central centrifugal cicatricial alopecia subset: gard_rare synonym: "central centrifugal alopecia" RELATED [GARD:0010826] synonym: "central centrifugal cicatricial alopecia" EXACT [] +synonym: "CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA; CCCA" RELATED [OMIM:618352] synonym: "hot comb alopecia" RELATED [] xref: GARD:0010826 {source="MONDO:equivalentTo"} xref: ICD9:704.09 {source="MONDO:relatedTo", source="i2s"} +xref: OMIM:618352 {source="MONDO:equivalentTo"} xref: SCTID:109441000119102 {source="MONDO:equivalentTo"} -xref: UMLS:C1274708 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} +xref: UMLS:C1274708 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:618352"} +is_a: MONDO:0003847 {source="OMIM:618352"} ! inherited genetic disease is_a: MONDO:0004907 {source="linkedlifedata", source="linkedlifedata/inferred"} ! alopecia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10826/central-centrifugal-cicatricial-alopecia xsd:anyURI {source="GARD:0010826"} @@ -413727,12 +413497,144 @@ xref: GARD:0007480 {source="MONDO:equivalentTo"} xref: UMLS:C0263353 {source="GARD:0007480", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005093 ! skin disease +[Term] +id: MONDO:0026720 +name: mitochondrial complex 1 deficiency, nuclear type 12 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12; MC1DN12" RELATED [OMIM:301020] +xref: OMIM:301020 {source="MONDO:equivalentTo"} +xref: Orphanet:2609 {source="OMIM:301020"} +xref: UMLS:C4746984 {source="OMIM:301020"} +is_a: MONDO:0000001 {source="OMIM:301020"} ! disease or disorder +is_a: MONDO:0009640 {source="OMIM:301020"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0026721 +name: mitochondrial complex 1 deficiency, nuclear type 30 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30; MC1DN30" RELATED [OMIM:301021] +xref: OMIM:301021 {source="MONDO:equivalentTo"} +xref: Orphanet:2609 {source="OMIM:301021"} +xref: UMLS:C4746985 {source="OMIM:301021"} +is_a: MONDO:0000001 {source="OMIM:301021"} ! disease or disorder +is_a: MONDO:0009640 {source="OMIM:301021"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0026722 +name: Mullegama-Klein-Martinez syndrome +synonym: "MULLEGAMA-KLEIN-MARTINEZ SYNDROME; MKMS" RELATED [OMIM:301022] +synonym: "Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities" RELATED [OMIM:301022] +xref: OMIM:301022 {source="MONDO:equivalentTo"} +xref: UMLS:C5193008 {source="OMIM:301022"} +is_a: MONDO:0000001 {source="OMIM:301022"} ! disease or disorder + +[Term] +id: MONDO:0026723 +name: intellectual developmental disorder, X-linked 108 +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108; MRX108" RELATED [OMIM:301024] +synonym: "Mental Retardation, X-Linked 108" RELATED [OMIM:301024] +xref: OMIM:301024 {source="MONDO:equivalentTo"} +xref: UMLS:C5193009 {source="OMIM:301024"} +is_a: MONDO:0000001 {source="OMIM:301024"} ! disease or disorder +is_a: MONDO:0019181 {source="OMIM:301024"} ! non-syndromic X-linked intellectual disability + +[Term] +id: MONDO:0026724 +name: Paganini-Miozzo syndrome +synonym: "Mental Retardation, X-Linked, Syndromic, Paganini-Miozzo Type" RELATED [OMIM:301025] +synonym: "PAGANINI-MIOZZO SYNDROME; MRXSPM" RELATED [OMIM:301025] +xref: OMIM:301025 {source="MONDO:equivalentTo"} +xref: UMLS:C5193010 {source="OMIM:301025"} +is_a: MONDO:0000001 {source="OMIM:301025"} ! disease or disorder +is_a: MONDO:0020119 {source="OMIM:301025"} ! X-linked syndromic intellectual disability + +[Term] +id: MONDO:0026726 +name: nephrotic syndrome, type 20 +synonym: "NEPHROTIC SYNDROME, TYPE 20; NPHS20" RELATED [OMIM:301028] +xref: OMIM:301028 {source="MONDO:equivalentTo"} +xref: Orphanet:656 {source="OMIM:301028"} +xref: UMLS:C5193011 {source="OMIM:301028"} +is_a: MONDO:0000001 {source="OMIM:301028"} ! disease or disorder +is_a: MONDO:0002350 {source="OMIM:301028"} ! familial nephrotic syndrome + +[Term] +id: MONDO:0026727 +name: Shukla-Vernon syndrome +synonym: "SHUKLA-VERNON SYNDROME; SHUVER" RELATED [OMIM:301029] +xref: OMIM:301029 {source="MONDO:equivalentTo"} +xref: UMLS:C5193146 {source="OMIM:301029"} +is_a: MONDO:0000001 {source="OMIM:301029"} ! disease or disorder + +[Term] +id: MONDO:0026729 +name: congenital disorder of glycosylation, type ICC +synonym: "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC" RELATED [OMIM:301031] +xref: OMIM:301031 {source="MONDO:equivalentTo"} +is_a: MONDO:0000001 {source="OMIM:301031"} ! disease or disorder +is_a: MONDO:0005500 {source="OMIM:301031"} ! congenital disorder of glycosylation type I + +[Term] +id: MONDO:0026730 +name: Basilicata-Akhtar syndrome +synonym: "BASILICATA-AKHTAR SYNDROME; MRXSBA" RELATED [OMIM:301032] +synonym: "Mental Retardation, X-Linked, Syndromic 36" RELATED [OMIM:301032] +synonym: "Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type" RELATED [OMIM:301032] +xref: OMIM:301032 {source="MONDO:equivalentTo"} +is_a: MONDO:0000001 {source="OMIM:301032"} ! disease or disorder +is_a: MONDO:0020119 {source="OMIM:301032"} ! X-linked syndromic intellectual disability + +[Term] +id: MONDO:0026731 +name: hypothyroidism, congenital, nongoitrous, 8 +synonym: "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8; CHNG8" RELATED [OMIM:301033] +xref: OMIM:301033 {source="MONDO:equivalentTo"} +is_a: MONDO:0000001 {source="OMIM:301033"} ! disease or disorder +is_a: MONDO:0000045 {source="OMIM:301033"} ! hypothyroidism, congenital, nongoitrous + +[Term] +id: MONDO:0026732 +name: hypothyroidism, congenital, nongoitrous, 9 +synonym: "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9" RELATED [OMIM:301035] +xref: OMIM:301035 {source="MONDO:equivalentTo"} +is_a: MONDO:0000001 {source="OMIM:301035"} ! disease or disorder +is_a: MONDO:0000045 {source="OMIM:301035"} ! hypothyroidism, congenital, nongoitrous + +[Term] +id: MONDO:0026733 +name: intellectual developmental disorder, x-linked, syndromic, hackmann-di donato type +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD" RELATED [OMIM:301039] +synonym: "Mental Retardation, X-Linked, With Marfanoid Habitus, 2" RELATED [OMIM:301039] +xref: OMIM:301039 {source="MONDO:equivalentTo"} +is_a: MONDO:0000001 {source="OMIM:301039"} ! disease or disorder +is_a: MONDO:0020119 {source="OMIM:301039"} ! X-linked syndromic intellectual disability + [Term] id: MONDO:0026754 name: obsolete histidinuria-renal tubular defect syndrome is_obsolete: true replaced_by: MONDO:0009346 +[Term] +id: MONDO:0026782 +name: chondrodysplasia punctata 2, X-linked dominant +synonym: "Cdpxd" RELATED [OMIM:302960] +synonym: "CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2" RELATED [OMIM:302960] +synonym: "Conradi-Hunermann Syndrome" RELATED [OMIM:302960] +synonym: "Conradi-Hunermann-Happle Syndrome" RELATED [OMIM:302960] +synonym: "Happle Syndrome" RELATED [OMIM:302960] +xref: OMIM:302960 {source="MONDO:equivalentTo"} +xref: Orphanet:35173 {source="OMIM:302960"} +xref: UMLS:C0282102 {source="OMIM:302960"} +is_a: MONDO:0000001 {source="OMIM:302960"} ! disease or disorder + +[Term] +id: MONDO:0026856 +name: obsolete homosexuality 1 +synonym: "HOMOSEXUALITY 1; HMS1" RELATED [OMIM:306995] +synonym: "Sexual Orientation, Male" RELATED [OMIM:306995] +xref: OMIM:306995 {source="MONDO:obsoleteEquivalent"} +xref: UMLS:C1415621 {source="OMIM:306995"} +is_obsolete: true + [Term] id: MONDO:0027026 name: Buschke Lowenstein tumor @@ -414693,6 +414595,3062 @@ is_a: MONDO:0004298 {source="DOID:0040090", source="NCIT:C95752/inferred"} ! sto intersection_of: MONDO:0004966 ! gastritis (disease) intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity +[Term] +id: MONDO:0032485 +name: intellectual developmental disorder 61 +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 61; MRD61" RELATED [OMIM:618009] +synonym: "Mental Retardation, Autosomal Dominant 61" RELATED [OMIM:618009] +xref: OMIM:618009 {source="MONDO:equivalentTo"} +is_a: MONDO:0000001 {source="OMIM:618009"} ! disease or disorder +is_a: MONDO:0015802 {source="OMIM:618009"} ! autosomal dominant non-syndromic intellectual disability + +[Term] +id: MONDO:0032526 +name: spinocerebellar ataxia 48 +synonym: "SPINOCEREBELLAR ATAXIA 48; SCA48" RELATED [OMIM:618093] +xref: OMIM:618093 {source="MONDO:equivalentTo"} +xref: UMLS:C4748158 {source="OMIM:618093"} +is_a: MONDO:0000001 {source="OMIM:618093"} ! disease or disorder +is_a: MONDO:0020380 {source="OMIM:618093"} ! autosomal dominant cerebellar ataxia + +[Term] +id: MONDO:0032564 +name: hennekam lymphangiectasia-lymphedema syndrome 3 +synonym: "HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3" RELATED [OMIM:618154] +xref: OMIM:618154 {source="MONDO:equivalentTo"} +xref: Orphanet:2136 {source="OMIM:618154"} +xref: UMLS:C4748408 {source="OMIM:618154"} +is_a: MONDO:0000001 {source="OMIM:618154"} ! disease or disorder +is_a: MONDO:0016256 {source="OMIM:618154"} ! Hennekam syndrome + +[Term] +id: MONDO:0032565 +name: ophthalmoplegia, external, with rib and vertebral anomalies +synonym: "OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES; EORVA" RELATED [OMIM:618155] +xref: OMIM:618155 {source="MONDO:equivalentTo"} +xref: UMLS:C4748418 {source="OMIM:618155"} +is_a: MONDO:0000001 {source="OMIM:618155"} ! disease or disorder + +[Term] +id: MONDO:0032566 +name: squalene synthase deficiency +synonym: "Neurodevelopmental Disorder With Low Cholesterol and Abnormal Urine Organic Acids" RELATED [OMIM:618156] +synonym: "SQUALENE SYNTHASE DEFICIENCY; SQSD" RELATED [OMIM:618156] +xref: OMIM:618156 {source="MONDO:equivalentTo"} +xref: UMLS:C4748427 {source="OMIM:618156"} +is_a: MONDO:0019058 {source="MONDO:cjm"} ! neurometabolic disease + +[Term] +id: MONDO:0032567 +name: isolated growth hormone deficiency, type 4 +synonym: "Dwarfism of Sindh" RELATED [OMIM:618157] +synonym: "Isolated Growth Hormone Deficiency, Type Ib" RELATED [OMIM:618157] +synonym: "Isolated Growth Hormone Deficiency, Type Ib, Formerly" RELATED [OMIM:618157] +synonym: "ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4" RELATED [OMIM:618157] +xref: OMIM:618157 {source="MONDO:equivalentTo"} +xref: Orphanet:231671 {source="OMIM:618157"} +xref: UMLS:C4722273 {source="OMIM:618157"} +is_a: MONDO:0000001 {source="OMIM:618157"} ! disease or disorder +is_a: MONDO:0000050 {source="OMIM:618157"} ! isolated congenital growth hormone deficiency + +[Term] +id: MONDO:0032568 +name: intellectual developmental disorder with macrocephaly, seizures, and speech delay +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY; IDDMSSD" RELATED [OMIM:618158] +xref: OMIM:618158 {source="MONDO:equivalentTo"} +xref: UMLS:C4748428 {source="OMIM:618158"} +is_a: MONDO:0000001 {source="OMIM:618158"} ! disease or disorder + +[Term] +id: MONDO:0032569 +name: isolated growth hormone deficiency, type 5 +synonym: "ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V; IGHD5" RELATED [OMIM:618160] +xref: OMIM:618160 {source="MONDO:equivalentTo"} +xref: Orphanet:231662 {source="OMIM:618160"} +xref: UMLS:C4748435 {source="OMIM:618160"} +is_a: MONDO:0000001 {source="OMIM:618160"} ! disease or disorder +is_a: MONDO:0000050 {source="OMIM:618160"} ! isolated congenital growth hormone deficiency + +[Term] +id: MONDO:0032570 +name: Joubert syndrome 35 +synonym: "JOUBERT SYNDROME 35; JBTS35" RELATED [OMIM:618161] +xref: OMIM:618161 {source="MONDO:equivalentTo"} +xref: Orphanet:475 {source="OMIM:618161"} +xref: UMLS:C4748442 {source="OMIM:618161"} +is_a: MONDO:0000001 {source="OMIM:618161"} ! disease or disorder +is_a: MONDO:0018772 {source="OMIM:618161"} ! Joubert syndrome + +[Term] +id: MONDO:0032571 +name: spondyloepimetaphyseal dysplasia, Krakow type +synonym: "Immunoosseous Dysplasia, Krakow Type" RELATED [OMIM:618162] +synonym: "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK" RELATED [OMIM:618162] +xref: OMIM:618162 {source="MONDO:equivalentTo"} +xref: UMLS:C4748455 {source="OMIM:618162"} +is_a: MONDO:0000001 {source="OMIM:618162"} ! disease or disorder +is_a: MONDO:0016761 {source="MONDO:cjm"} ! spondylo-epi-(meta)-physeal dysplasia + +[Term] +id: MONDO:0032572 +name: cardiac, facial, and digital anomalies with developmental delay +synonym: "CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD" RELATED [OMIM:618164] +xref: OMIM:618164 {source="MONDO:equivalentTo"} +xref: UMLS:C4748484 {source="OMIM:618164"} +is_a: MONDO:0003847 {source="OMIM:618164"} ! inherited genetic disease + +[Term] +id: MONDO:0032573 +name: bone marrow failure syndrome 5 +synonym: "BONE MARROW FAILURE SYNDROME 5; BMFS5" RELATED [OMIM:618165] +xref: OMIM:618165 {source="MONDO:equivalentTo"} +xref: UMLS:C4748488 {source="OMIM:618165"} +is_a: MONDO:0000159 {source="OMIM:618165"} ! bone marrow failure syndrome +is_a: MONDO:0003847 {source="OMIM:618165"} ! inherited genetic disease + +[Term] +id: MONDO:0032574 +name: osteochondrodysplasia, brachydactyly, and overlapping malformed digits +synonym: "OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD" RELATED [OMIM:618167] +xref: OMIM:618167 {source="MONDO:equivalentTo"} +xref: UMLS:C4748496 {source="OMIM:618167"} +is_a: MONDO:0003847 {source="OMIM:618167"} ! inherited genetic disease + +[Term] +id: MONDO:0032575 +name: diarrhea 9 +synonym: "DIARRHEA 9; DIAR9" RELATED [OMIM:618168] +xref: OMIM:618168 {source="MONDO:equivalentTo"} +xref: UMLS:C4748517 {source="OMIM:618168"} +is_a: MONDO:0000824 {source="OMIM:618168"} ! congenital diarrhea +is_a: MONDO:0003847 {source="OMIM:618168"} ! inherited genetic disease + +[Term] +id: MONDO:0032577 +name: retinitis pigmentosa 83 +synonym: "RETINITIS PIGMENTOSA 83; RP83" RELATED [OMIM:618173] +xref: OMIM:618173 {source="MONDO:equivalentTo"} +xref: Orphanet:791 {source="OMIM:618173"} +xref: UMLS:C4748536 {source="OMIM:618173"} +is_a: MONDO:0003847 {source="OMIM:618173"} ! inherited genetic disease +is_a: MONDO:0019200 {source="OMIM:618173"} ! retinitis pigmentosa + +[Term] +id: MONDO:0032578 +name: cortical dysplasia, complex, with other brain malformations 9 +synonym: "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9" RELATED [OMIM:618174] +xref: OMIM:618174 {source="MONDO:equivalentTo"} +xref: UMLS:C4748540 {source="OMIM:618174"} +is_a: MONDO:0000904 {source="OMIM:618174"} ! complex cortical dysplasia with other brain malformations +is_a: MONDO:0003847 {source="OMIM:618174"} ! inherited genetic disease + +[Term] +id: MONDO:0032579 +name: warburg-cinotti syndrome +synonym: "WARBURG-CINOTTI SYNDROME; WRCN" RELATED [OMIM:618175] +xref: OMIM:618175 {source="MONDO:equivalentTo"} +xref: UMLS:C5193019 {source="OMIM:618175"} +is_a: MONDO:0003847 {source="OMIM:618175"} ! inherited genetic disease + +[Term] +id: MONDO:0032580 +name: nephrotic syndrome, type 17 +synonym: "NEPHROTIC SYNDROME, TYPE 17; NPHS17" RELATED [OMIM:618176] +xref: OMIM:618176 {source="MONDO:equivalentTo"} +xref: Orphanet:656 {source="OMIM:618176"} +xref: UMLS:C4748545 {source="OMIM:618176"} +is_a: MONDO:0002350 {source="OMIM:618176"} ! familial nephrotic syndrome +is_a: MONDO:0003847 {source="OMIM:618176"} ! inherited genetic disease + +[Term] +id: MONDO:0032581 +name: nephrotic syndrome, type 18 +synonym: "NEPHROTIC SYNDROME, TYPE 18; NPHS18" RELATED [OMIM:618177] +xref: OMIM:618177 {source="MONDO:equivalentTo"} +xref: Orphanet:656 {source="OMIM:618177"} +xref: UMLS:C4748549 {source="OMIM:618177"} +is_a: MONDO:0002350 {source="OMIM:618177"} ! familial nephrotic syndrome +is_a: MONDO:0003847 {source="OMIM:618177"} ! inherited genetic disease + +[Term] +id: MONDO:0032582 +name: nephrotic syndrome, type 19 +synonym: "NEPHROTIC SYNDROME, TYPE 19; NPHS19" RELATED [OMIM:618178] +xref: OMIM:618178 {source="MONDO:equivalentTo"} +xref: Orphanet:656 {source="OMIM:618178"} +xref: UMLS:C4748552 {source="OMIM:618178"} +is_a: MONDO:0002350 {source="OMIM:618178"} ! familial nephrotic syndrome +is_a: MONDO:0003847 {source="OMIM:618178"} ! inherited genetic disease + +[Term] +id: MONDO:0032583 +name: microcephaly 24, primary, autosomal recessive +synonym: "MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE; MCPH24" RELATED [OMIM:618179] +xref: OMIM:618179 {source="MONDO:equivalentTo"} +xref: Orphanet:656 {source="OMIM:618179"} +xref: UMLS:C4748555 {source="OMIM:618179"} +is_a: MONDO:0003847 {source="OMIM:618179"} ! inherited genetic disease +is_a: MONDO:0016660 {source="OMIM:618179"} ! autosomal recessive primary microcephaly + +[Term] +id: MONDO:0032584 +name: ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis +synonym: "ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS; ECTD14" RELATED [OMIM:618180] +xref: OMIM:618180 {source="MONDO:equivalentTo"} +xref: UMLS:C4748560 {source="OMIM:618180"} +is_a: MONDO:0003847 {source="OMIM:618180"} ! inherited genetic disease +is_a: MONDO:0019287 {source="OMIM:618180"} ! ectodermal dysplasia syndrome + +[Term] +id: MONDO:0032586 +name: diarrhea 10, protein-losing enteropathy type +synonym: "DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE; DIAR10" RELATED [OMIM:618183] +xref: OMIM:618183 {source="MONDO:equivalentTo"} +xref: Orphanet:329242 {source="OMIM:618183"} +xref: UMLS:C4748579 {source="OMIM:618183"} +is_a: MONDO:0000824 {source="OMIM:618183"} ! congenital diarrhea +is_a: MONDO:0003847 {source="OMIM:618183"} ! inherited genetic disease + +[Term] +id: MONDO:0032588 +name: periventricular nodular heterotopia 8 +synonym: "PERIVENTRICULAR NODULAR HETEROTOPIA 8; PVNH8" RELATED [OMIM:618185] +xref: OMIM:618185 {source="MONDO:equivalentTo"} +xref: Orphanet:98892 {source="OMIM:618185"} +xref: UMLS:C4748602 {source="OMIM:618185"} +is_a: MONDO:0003847 {source="OMIM:618185"} ! inherited genetic disease +is_a: MONDO:0020341 {source="OMIM:618185"} ! periventricular nodular heterotopia + +[Term] +id: MONDO:0032590 +name: ovarian dysgenesis 8 +synonym: "OVARIAN DYSGENESIS 8; ODG8" RELATED [OMIM:618187] +xref: OMIM:618187 {source="MONDO:equivalentTo"} +xref: UMLS:C4748626 {source="OMIM:618187"} +is_a: MONDO:0003847 {source="OMIM:618187"} ! inherited genetic disease +is_a: MONDO:0009299 {source="OMIM:618187"} ! 46 XX gonadal dysgenesis + +[Term] +id: MONDO:0032591 +name: hyperparathyroidism, transient neonatal +synonym: "HYPERPARATHYROIDISM, TRANSIENT NEONATAL; HRPTTN" RELATED [OMIM:618188] +xref: OMIM:618188 {source="MONDO:equivalentTo"} +xref: Orphanet:417 {source="OMIM:618188"} +xref: UMLS:C1300287 {source="OMIM:618188"} +is_a: MONDO:0001741 {source="OMIM:618188"} ! hyperparathyroidism +is_a: MONDO:0003847 {source="OMIM:618188"} ! inherited genetic disease + +[Term] +id: MONDO:0032592 +name: cardiomyopathy, dilated, 2c +synonym: "CARDIOMYOPATHY, DILATED, 2C; CMD2C" RELATED [OMIM:618189] +xref: OMIM:618189 {source="MONDO:equivalentTo"} +xref: Orphanet:154 {source="OMIM:618189"} +xref: UMLS:C4748647 {source="OMIM:618189"} +is_a: MONDO:0003847 {source="OMIM:618189"} ! inherited genetic disease + +[Term] +id: MONDO:0032594 +name: intellectual developmental disorder and retinitis pigmentosa; IDDRP +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA; IDDRP" RELATED [OMIM:618195] +xref: OMIM:618195 {source="MONDO:equivalentTo"} +xref: Orphanet:791 {source="OMIM:618195"} +xref: UMLS:C4748658 {source="OMIM:618195"} +is_a: MONDO:0001071 ! intellectual disability +is_a: MONDO:0003847 {source="OMIM:618195"} ! inherited genetic disease +relationship: disease_has_feature MONDO:0019200 ! retinitis pigmentosa + +[Term] +id: MONDO:0032596 +name: myasthenic syndrome, congenital, 23, presynaptic +synonym: "MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC; CMS23" RELATED [OMIM:618197] +xref: OMIM:618197 {source="MONDO:equivalentTo"} +xref: Orphanet:98914 {source="OMIM:618197"} +xref: UMLS:C4748678 {source="OMIM:618197"} +is_a: MONDO:0003847 {source="OMIM:618197"} ! inherited genetic disease +is_a: MONDO:0018940 {source="OMIM:618197"} ! congenital myasthenic syndrome + +[Term] +id: MONDO:0032597 +name: myasthenic syndrome, congenital, 24, presynaptic +synonym: "MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC; CMS24" RELATED [OMIM:618198] +xref: OMIM:618198 {source="MONDO:equivalentTo"} +xref: Orphanet:98914 {source="OMIM:618198"} +xref: UMLS:C4748684 {source="OMIM:618198"} +is_a: MONDO:0003847 {source="OMIM:618198"} ! inherited genetic disease +is_a: MONDO:0018940 {source="OMIM:618198"} ! congenital myasthenic syndrome + +[Term] +id: MONDO:0032598 +name: epileptic encephalopathy, early infantile, 68 +synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68; EIEE68" RELATED [OMIM:618201] +xref: OMIM:618201 {source="MONDO:equivalentTo"} +xref: Orphanet:442835 {source="OMIM:618201"} +xref: UMLS:C4748688 {source="OMIM:618201"} +is_a: MONDO:0003847 {source="OMIM:618201"} ! inherited genetic disease +is_a: MONDO:0016021 {source="OMIM:618201"} ! early infantile epileptic encephalopathy + +[Term] +id: MONDO:0032599 +name: immunodeficiency 15a +synonym: "IMMUNODEFICIENCY 15A; IMD15A" RELATED [OMIM:618204] +xref: OMIM:618204 {source="MONDO:equivalentTo"} +xref: Orphanet:397787 {source="OMIM:618204"} +xref: UMLS:C4748694 {source="OMIM:618204"} +is_a: MONDO:0003847 {source="OMIM:618204"} ! inherited genetic disease +is_a: MONDO:0021094 {source="OMIM:618204"} ! immunodeficiency disease + +[Term] +id: MONDO:0032600 +name: snijders blok-campeau syndrome +synonym: "Intellectual Developmental Disorder With Macrocephaly, Speech Delay, and Dysmorphic Facies" RELATED [OMIM:618205] +synonym: "SNIJDERS BLOK-CAMPEAU SYNDROME; SNIBCPS" RELATED [OMIM:618205] +xref: OMIM:618205 {source="MONDO:equivalentTo"} +xref: UMLS:C4748701 {source="OMIM:618205"} +is_a: MONDO:0003847 {source="OMIM:618205"} ! inherited genetic disease + +[Term] +id: MONDO:0032601 +name: inflammatory bowel disease, immunodeficiency, and encephalopathy +synonym: "INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE" RELATED [OMIM:618213] +xref: OMIM:618213 {source="MONDO:equivalentTo"} +xref: Orphanet:565788 {source="OMIM:618213"} +xref: UMLS:C4748708 {source="OMIM:618213"} +is_a: MONDO:0003847 {source="OMIM:618213"} ! inherited genetic disease + +[Term] +id: MONDO:0032603 +name: polydactyly, postaxial, type A9 +synonym: "POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9" RELATED [OMIM:618219] +xref: OMIM:618219 {source="MONDO:equivalentTo"} +xref: Orphanet:93334 {source="OMIM:618219"} +xref: UMLS:C4748721 {source="OMIM:618219"} +is_a: MONDO:0003847 {source="OMIM:618219"} ! inherited genetic disease +is_a: MONDO:0020927 {source="OMIM:618219"} ! postaxial polydactyly + +[Term] +id: MONDO:0032604 +name: retinitis pigmentosa 84 +synonym: "RETINITIS PIGMENTOSA 84; RP84" RELATED [OMIM:618220] +xref: OMIM:618220 {source="MONDO:equivalentTo"} +xref: Orphanet:791 {source="OMIM:618220"} +xref: UMLS:C4748725 {source="OMIM:618220"} +is_a: MONDO:0003847 {source="OMIM:618220"} ! inherited genetic disease +is_a: MONDO:0019200 {source="OMIM:618220"} ! retinitis pigmentosa + +[Term] +id: MONDO:0032605 +name: mental retardation, autosomal recessive 66 +synonym: "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66; MRT66" RELATED [OMIM:618221] +xref: OMIM:618221 {source="MONDO:equivalentTo"} +xref: Orphanet:88616 {source="OMIM:618221"} +xref: UMLS:C4748732 {source="OMIM:618221"} +is_a: MONDO:0003847 {source="OMIM:618221"} ! inherited genetic disease +is_a: MONDO:0019502 {source="OMIM:618221"} ! autosomal recessive non-syndromic intellectual disability + +[Term] +id: MONDO:0032606 +name: mitochondrial complex 1 deficiency, nuclear type 2 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2; MC1DN2" RELATED [OMIM:618222] +xref: OMIM:618222 {source="MONDO:equivalentTo"} +xref: Orphanet:255241 {source="OMIM:618222"} +xref: Orphanet:2609 {source="OMIM:618222"} +xref: UMLS:C4748737 {source="OMIM:618222"} +is_a: MONDO:0003847 {source="OMIM:618222"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618222"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032607 +name: vertebral anomalies and variable endocrine and T-cell dysfunction +synonym: "VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION; VETD" RELATED [OMIM:618223] +xref: OMIM:618223 {source="MONDO:equivalentTo"} +xref: UMLS:C4748741 {source="OMIM:618223"} +is_a: MONDO:0003847 {source="OMIM:618223"} ! inherited genetic disease + +[Term] +id: MONDO:0032608 +name: mitochondrial complex 1 deficiency, nuclear type 3 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3; MC1DN3" RELATED [OMIM:618224] +xref: OMIM:618224 {source="MONDO:equivalentTo"} +xref: Orphanet:255241 {source="OMIM:618224"} +xref: Orphanet:2609 {source="OMIM:618224"} +xref: UMLS:C4748752 {source="OMIM:618224"} +is_a: MONDO:0003847 {source="OMIM:618224"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618224"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032609 +name: mitochondrial complex 1 deficiency, nuclear type 4 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4; MC1DN4" RELATED [OMIM:618225] +xref: OMIM:618225 {source="MONDO:equivalentTo"} +xref: Orphanet:255241 {source="OMIM:618225"} +xref: Orphanet:2609 {source="OMIM:618225"} +xref: UMLS:C4748753 {source="OMIM:618225"} +is_a: MONDO:0003847 {source="OMIM:618225"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618225"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032610 +name: mitochondrial complex 1 deficiency, nuclear type 5 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5; MC1DN5" RELATED [OMIM:618226] +xref: OMIM:618226 {source="MONDO:equivalentTo"} +xref: Orphanet:255241 {source="OMIM:618226"} +xref: Orphanet:2609 {source="OMIM:618226"} +xref: UMLS:C4748754 {source="OMIM:618226"} +is_a: MONDO:0003847 {source="OMIM:618226"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618226"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032611 +name: mitochondrial complex 1 deficiency, nuclear type 6 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6; MC1DN6" RELATED [OMIM:618228] +xref: OMIM:618228 {source="MONDO:equivalentTo"} +xref: Orphanet:255241 {source="OMIM:618228"} +xref: Orphanet:2609 {source="OMIM:618228"} +xref: Orphanet:70474 {source="OMIM:618228"} +xref: UMLS:C4748759 {source="OMIM:618228"} +is_a: MONDO:0003847 {source="OMIM:618228"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618228"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032612 +name: mitochondrial complex 1 deficiency, nuclear type 7 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7; MC1DN7" RELATED [OMIM:618229] +xref: OMIM:618229 {source="MONDO:equivalentTo"} +xref: Orphanet:255241 {source="OMIM:618229"} +xref: Orphanet:2609 {source="OMIM:618229"} +xref: UMLS:C4748760 {source="OMIM:618229"} +is_a: MONDO:0003847 {source="OMIM:618229"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618229"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032613 +name: mitochondrial complex 1 deficiency, nuclear type 8 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8; MC1DN8" RELATED [OMIM:618230] +xref: OMIM:618230 {source="MONDO:equivalentTo"} +xref: Orphanet:255241 {source="OMIM:618230"} +xref: Orphanet:2609 {source="OMIM:618230"} +xref: UMLS:C4748766 {source="OMIM:618230"} +is_a: MONDO:0003847 {source="OMIM:618230"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618230"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032614 +name: epidermodysplasia verruciformis, susceptibility to, 2 +synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2; EV2" RELATED [OMIM:618231] +xref: OMIM:618231 {source="MONDO:equivalentTo"} +xref: Orphanet:302 {source="OMIM:618231"} +xref: UMLS:C4722258 {source="OMIM:618231"} +is_a: MONDO:0003847 {source="OMIM:618231"} ! inherited genetic disease +is_a: MONDO:0009176 {source="OMIM:618231"} ! epidermodysplasia verruciformis + +[Term] +id: MONDO:0032615 +name: mitochondrial complex 1 deficiency, nuclear type 9 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9; MC1DN9" RELATED [OMIM:618232] +xref: OMIM:618232 {source="MONDO:equivalentTo"} +xref: Orphanet:2609 {source="OMIM:618232"} +xref: UMLS:C4748767 {source="OMIM:618232"} +is_a: MONDO:0003847 {source="OMIM:618232"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618232"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032616 +name: mitochondrial complex 1 deficiency, nuclear type 10 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10; MC1DN10" RELATED [OMIM:618233] +xref: OMIM:618233 {source="MONDO:equivalentTo"} +xref: Orphanet:255241 {source="OMIM:618233"} +xref: Orphanet:2609 {source="OMIM:618233"} +xref: UMLS:C4748768 {source="OMIM:618233"} +is_a: MONDO:0003847 {source="OMIM:618233"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618233"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032617 +name: mitochondrial complex 1 deficiency, nuclear type 11 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11; MC1DN11" RELATED [OMIM:618234] +xref: OMIM:618234 {source="MONDO:equivalentTo"} +xref: Orphanet:2609 {source="OMIM:618234"} +xref: UMLS:C4748769 {source="OMIM:618234"} +is_a: MONDO:0003847 {source="OMIM:618234"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618234"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032618 +name: mitochondrial complex 1 deficiency, nuclear type 13 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13; MC1DN13" RELATED [OMIM:618235] +xref: OMIM:618235 {source="MONDO:equivalentTo"} +xref: Orphanet:255241 {source="OMIM:618235"} +xref: UMLS:C4748770 {source="OMIM:618235"} +is_a: MONDO:0003847 {source="OMIM:618235"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618235"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032619 +name: mitochondrial complex 1 deficiency, nuclear type 14 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14; MC1DN14" RELATED [OMIM:618236] +xref: OMIM:618236 {source="MONDO:equivalentTo"} +xref: Orphanet:2609 {source="OMIM:618236"} +xref: UMLS:C4748777 {source="OMIM:618236"} +is_a: MONDO:0003847 {source="OMIM:618236"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618236"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032620 +name: mitochondrial complex 1 deficiency, nuclear type 15 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15; MC1DN15" RELATED [OMIM:618237] +xref: OMIM:618237 {source="MONDO:equivalentTo"} +xref: Orphanet:2609 {source="OMIM:618237"} +xref: UMLS:C4748778 {source="OMIM:618237"} +is_a: MONDO:0003847 {source="OMIM:618237"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618237"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032621 +name: mitochondrial complex 1 deficiency, nuclear type 16 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16; MC1DN16" RELATED [OMIM:618238] +xref: OMIM:618238 {source="MONDO:equivalentTo"} +xref: Orphanet:2609 {source="OMIM:618238"} +xref: UMLS:C4748785 {source="OMIM:618238"} +is_a: MONDO:0003847 {source="OMIM:618238"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618238"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032622 +name: mitochondrial complex 1 deficiency, nuclear type 17 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17; MC1DN17" RELATED [OMIM:618239] +xref: OMIM:618239 {source="MONDO:equivalentTo"} +xref: Orphanet:255241 {source="OMIM:618239"} +xref: UMLS:C4748786 {source="OMIM:618239"} +is_a: MONDO:0003847 {source="OMIM:618239"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618239"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032623 +name: mitochondrial complex 1 deficiency, nuclear type 18 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18; MC1DN18" RELATED [OMIM:618240] +xref: OMIM:618240 {source="MONDO:equivalentTo"} +xref: Orphanet:255241 {source="OMIM:618240"} +xref: Orphanet:2609 {source="OMIM:618240"} +xref: UMLS:C4748790 {source="OMIM:618240"} +is_a: MONDO:0003847 {source="OMIM:618240"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618240"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032624 +name: mitochondrial complex 1 deficiency, nuclear type 19 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19; MC1DN19" RELATED [OMIM:618241] +xref: OMIM:618241 {source="MONDO:equivalentTo"} +xref: Orphanet:255241 {source="OMIM:618241"} +xref: Orphanet:2609 {source="OMIM:618241"} +xref: UMLS:C4748791 {source="OMIM:618241"} +is_a: MONDO:0003847 {source="OMIM:618241"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618241"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032625 +name: mitochondrial complex 1 deficiency, nuclear type 21 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21; MC1DN21" RELATED [OMIM:618242] +xref: OMIM:618242 {source="MONDO:equivalentTo"} +xref: Orphanet:2609 {source="OMIM:618242"} +xref: UMLS:C4748792 {source="OMIM:618242"} +is_a: MONDO:0003847 {source="OMIM:618242"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618242"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032626 +name: mitochondrial complex 1 deficiency, nuclear type 22 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22; MC1DN22" RELATED [OMIM:618243] +xref: OMIM:618243 {source="MONDO:equivalentTo"} +xref: Orphanet:255241 {source="OMIM:618243"} +xref: UMLS:C4748796 {source="OMIM:618243"} +is_a: MONDO:0003847 {source="OMIM:618243"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618243"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032627 +name: mitochondrial complex 1 deficiency, nuclear type 23 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23; MC1DN23" RELATED [OMIM:618244] +xref: OMIM:618244 {source="MONDO:equivalentTo"} +xref: Orphanet:255241 {source="OMIM:618244"} +xref: UMLS:C4748799 {source="OMIM:618244"} +is_a: MONDO:0003847 {source="OMIM:618244"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618244"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032628 +name: mitochondrial complex 1 deficiency, nuclear type 24 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24; MC1DN24" RELATED [OMIM:618245] +xref: OMIM:618245 {source="MONDO:equivalentTo"} +xref: Orphanet:2609 {source="OMIM:618245"} +xref: UMLS:C4748803 {source="OMIM:618245"} +is_a: MONDO:0003847 {source="OMIM:618245"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618245"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032629 +name: mitochondrial complex 1 deficiency, nuclear type 25 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25; MC1DN25" RELATED [OMIM:618246] +xref: OMIM:618246 {source="MONDO:equivalentTo"} +xref: Orphanet:2609 {source="OMIM:618246"} +xref: UMLS:C4748806 {source="OMIM:618246"} +is_a: MONDO:0003847 {source="OMIM:618246"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618246"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032630 +name: mitochondrial complex 1 deficiency, nuclear type 26 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26; MC1DN26" RELATED [OMIM:618247] +xref: OMIM:618247 {source="MONDO:equivalentTo"} +xref: UMLS:C4748809 {source="OMIM:618247"} +is_a: MONDO:0003847 {source="OMIM:618247"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618247"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032631 +name: mitochondrial complex 1 deficiency, nuclear type 27 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27; MC1DN27" RELATED [OMIM:618248] +xref: OMIM:618248 {source="MONDO:equivalentTo"} +xref: Orphanet:255241 {source="OMIM:618248"} +xref: UMLS:C4748826 {source="OMIM:618248"} +is_a: MONDO:0003847 {source="OMIM:618248"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618248"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032632 +name: mitochondrial complex 1 deficiency, nuclear type 28 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28; MC1DN28" RELATED [OMIM:618249] +xref: OMIM:618249 {source="MONDO:equivalentTo"} +xref: Orphanet:255241 {source="OMIM:618249"} +xref: UMLS:C4748827 {source="OMIM:618249"} +is_a: MONDO:0003847 {source="OMIM:618249"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618249"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032633 +name: mitochondrial complex 1 deficiency, nuclear type 29 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29; MC1DN29" RELATED [OMIM:618250] +xref: OMIM:618250 {source="MONDO:equivalentTo"} +xref: Orphanet:2609 {source="OMIM:618250"} +xref: UMLS:C4748830 {source="OMIM:618250"} +is_a: MONDO:0003847 {source="OMIM:618250"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618250"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032634 +name: mitochondrial complex 1 deficiency, nuclear type 31 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31" RELATED [OMIM:618251] +xref: OMIM:618251 {source="MONDO:equivalentTo"} +xref: Orphanet:2609 {source="OMIM:618251"} +xref: UMLS:C4748838 {source="OMIM:618251"} +is_a: MONDO:0003847 {source="OMIM:618251"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618251"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032635 +name: mitochondrial complex 1 deficiency, nuclear type 32 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32; MC1DN32" RELATED [OMIM:618252] +xref: OMIM:618252 {source="MONDO:equivalentTo"} +xref: Orphanet:70474 {source="OMIM:618252"} +xref: UMLS:C4748839 {source="OMIM:618252"} +is_a: MONDO:0003847 {source="OMIM:618252"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618252"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032636 +name: mitochondrial complex 1 deficiency, nuclear type 33 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33; MC1DN33" RELATED [OMIM:618253] +xref: OMIM:618253 {source="MONDO:equivalentTo"} +xref: Orphanet:2609 {source="OMIM:618253"} +xref: UMLS:C4748840 {source="OMIM:618253"} +is_a: MONDO:0003847 {source="OMIM:618253"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618253"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032637 +name: ciliary dyskinesia, primary, 39 +synonym: "Ciliary Dyskinesia, Primary, 39, With or Without Situs Inversus" RELATED [OMIM:618254] +synonym: "CILIARY DYSKINESIA, PRIMARY, 39; CILD39" RELATED [OMIM:618254] +xref: OMIM:618254 {source="MONDO:equivalentTo"} +xref: UMLS:C4748841 {source="OMIM:618254"} +is_a: MONDO:0003847 {source="OMIM:618254"} ! inherited genetic disease +is_a: MONDO:0016575 {source="OMIM:618254"} ! primary ciliary dyskinesia + +[Term] +id: MONDO:0032639 +name: deafness, autosomal recessive 112 +synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 112; DFNB112" RELATED [OMIM:618257] +xref: OMIM:618257 {source="MONDO:equivalentTo"} +xref: Orphanet:255241 {source="OMIM:618257"} +xref: Orphanet:90636 {source="OMIM:618257"} +xref: UMLS:C4748855 {source="OMIM:618257"} +is_a: MONDO:0003847 {source="OMIM:618257"} ! inherited genetic disease +is_a: MONDO:0019588 {source="OMIM:618257"} ! autosomal recessive nonsyndromic deafness + +[Term] +id: MONDO:0032641 +name: mirror movements 4 +synonym: "MIRROR MOVEMENTS 4; MRMV4" RELATED [OMIM:618264] +xref: OMIM:618264 {source="MONDO:equivalentTo"} +xref: Orphanet:238722 {source="OMIM:618264"} +xref: UMLS:C4748869 {source="OMIM:618264"} +is_a: MONDO:0003847 {source="OMIM:618264"} ! inherited genetic disease +is_a: MONDO:0016558 {source="OMIM:618264"} ! familial congenital mirror movements + +[Term] +id: MONDO:0032642 +name: arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development +synonym: "ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT; ACCIID" RELATED [OMIM:618265] +xref: OMIM:618265 {source="MONDO:equivalentTo"} +xref: Orphanet:565858 {source="OMIM:618265"} +xref: UMLS:C4748872 {source="OMIM:618265"} +is_a: MONDO:0003847 {source="OMIM:618265"} ! inherited genetic disease + +[Term] +id: MONDO:0032643 +name: pontocerebellar hypoplasia, type 12 +synonym: "PONTOCEREBELLAR HYPOPLASIA, TYPE 12; PCH12" RELATED [OMIM:618266] +xref: OMIM:618266 {source="MONDO:equivalentTo"} +xref: UMLS:C4748873 {source="OMIM:618266"} +is_a: MONDO:0003847 {source="OMIM:618266"} ! inherited genetic disease +is_a: MONDO:0020135 {source="OMIM:618266"} ! pontocerebellar hypoplasia + +[Term] +id: MONDO:0032644 +name: epidermodysplasia verruciformis, susceptibility to, 3 +synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3; EV3" RELATED [OMIM:618267] +xref: OMIM:618267 {source="MONDO:equivalentTo"} +xref: Orphanet:302 {source="OMIM:618267"} +xref: UMLS:C4748876 {source="OMIM:618267"} +is_a: MONDO:0003847 {source="OMIM:618267"} ! inherited genetic disease +is_a: MONDO:0009176 {source="OMIM:618267"} ! epidermodysplasia verruciformis + +[Term] +id: MONDO:0032645 +name: trichohepatoneurodevelopmental syndrome +synonym: "TRICHOHEPATONEURODEVELOPMENTAL SYNDROME; THNS" RELATED [OMIM:618268] +xref: OMIM:618268 {source="MONDO:equivalentTo"} +xref: UMLS:C4748898 {source="OMIM:618268"} +is_a: MONDO:0003847 {source="OMIM:618268"} ! inherited genetic disease + +[Term] +id: MONDO:0032646 +name: congenital anomalies of kidney and urinary tract 3 +synonym: "CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3; CAKUT3" RELATED [OMIM:618270] +xref: OMIM:618270 {source="MONDO:equivalentTo"} +xref: UMLS:C4748921 {source="OMIM:618270"} +is_a: MONDO:0003847 {source="OMIM:618270"} ! inherited genetic disease +is_a: MONDO:0019719 {source="OMIM:618270"} ! congenital anomaly of kidney and urinary tract + +[Term] +id: MONDO:0032647 +name: global developmental delay, lung cysts, overgrowth, and wilms tumor +synonym: "GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR; GLOW" RELATED [OMIM:618272] +synonym: "Glow Syndrome" RELATED [OMIM:618272] +xref: OMIM:618272 {source="MONDO:equivalentTo"} +xref: Orphanet:404476 {source="OMIM:618272"} +xref: UMLS:C4748924 {source="OMIM:618272"} +is_a: MONDO:0003847 {source="OMIM:618272"} ! inherited genetic disease + +[Term] +id: MONDO:0032648 +name: mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations +synonym: "MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS; MCCCHCM" RELATED [OMIM:618273] +xref: OMIM:618273 {source="MONDO:equivalentTo"} +xref: UMLS:C4748927 {source="OMIM:618273"} +is_a: MONDO:0003847 {source="OMIM:618273"} ! inherited genetic disease + +[Term] +id: MONDO:0032649 +name: hypotrichosis 14 +synonym: "HYPOTRICHOSIS 14; HYPT14" RELATED [OMIM:618275] +xref: OMIM:618275 {source="MONDO:equivalentTo"} +xref: Orphanet:55654 {source="OMIM:618275"} +xref: UMLS:C4748930 {source="OMIM:618275"} +is_a: MONDO:0003037 {source="OMIM:618275"} ! hypotrichosis +is_a: MONDO:0003847 {source="OMIM:618275"} ! inherited genetic disease + +[Term] +id: MONDO:0032650 +name: neurodegeneration, childhood-onset, with cerebellar atrophy +synonym: "NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY; CONDCA" RELATED [OMIM:618276] +xref: OMIM:618276 {source="MONDO:equivalentTo"} +xref: UMLS:C4748934 {source="OMIM:618276"} +is_a: MONDO:0003847 {source="OMIM:618276"} ! inherited genetic disease + +[Term] +id: MONDO:0032651 +name: fibrosis, neurodegeneration, and cerebral angiomatosis +synonym: "FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS; FINCA" RELATED [OMIM:618278] +xref: OMIM:618278 {source="MONDO:equivalentTo"} +xref: UMLS:C4748939 {source="OMIM:618278"} +is_a: MONDO:0003847 {source="OMIM:618278"} ! inherited genetic disease + +[Term] +id: MONDO:0032653 +name: cardiac-urogenital syndrome +synonym: "CARDIAC-UROGENITAL SYNDROME; CUGS" RELATED [OMIM:618280] +xref: OMIM:618280 {source="MONDO:equivalentTo"} +xref: UMLS:C4748946 {source="OMIM:618280"} +is_a: MONDO:0003847 {source="OMIM:618280"} ! inherited genetic disease + +[Term] +id: MONDO:0032654 +name: hyper-IgE recurrent infection syndrome 3, autosomal recessive +synonym: "HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE; HIES3" RELATED [OMIM:618282] +xref: OMIM:618282 {source="MONDO:equivalentTo"} +xref: UMLS:C4748969 {source="OMIM:618282"} +is_a: MONDO:0003847 {source="OMIM:618282"} ! inherited genetic disease +is_a: MONDO:0018037 {source="OMIM:618282"} ! hyper-IgE syndrome + +[Term] +id: MONDO:0032655 +name: visual impairment and progressive phthisis bulbi +synonym: "VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI; VIPB" RELATED [OMIM:618283] +xref: OMIM:618283 {source="MONDO:equivalentTo"} +xref: UMLS:C4748978 {source="OMIM:618283"} +is_a: MONDO:0003847 {source="OMIM:618283"} ! inherited genetic disease + +[Term] +id: MONDO:0032656 +name: microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum +synonym: "MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM; MCIDDS" RELATED [OMIM:618284] +xref: OMIM:618284 {source="MONDO:equivalentTo"} +xref: UMLS:C4748984 {source="OMIM:618284"} +is_a: MONDO:0003847 {source="OMIM:618284"} ! inherited genetic disease + +[Term] +id: MONDO:0032657 +name: epileptic encephalopathy, early infantile, 69 +synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69; EIEE69" RELATED [OMIM:618285] +xref: OMIM:618285 {source="MONDO:equivalentTo"} +xref: UMLS:C4748988 {source="OMIM:618285"} +is_a: MONDO:0003847 {source="OMIM:618285"} ! inherited genetic disease +is_a: MONDO:0016021 {source="OMIM:618285"} ! early infantile epileptic encephalopathy + +[Term] +id: MONDO:0032658 +name: macrocephaly, acquired, with impaired intellectual development +synonym: "MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT; MACID" RELATED [OMIM:618286] +synonym: "Macrocephaly, Acquired, With Mental Retardation" RELATED [OMIM:618286] +xref: OMIM:618286 {source="MONDO:equivalentTo"} +xref: UMLS:C4748993 {source="OMIM:618286"} +is_a: MONDO:0003847 {source="OMIM:618286"} ! inherited genetic disease + +[Term] +id: MONDO:0032659 +name: mucocutaneous ulceration, chronic +synonym: "MUCOCUTANEOUS ULCERATION, CHRONIC; CMCU" RELATED [OMIM:618287] +xref: OMIM:618287 {source="MONDO:equivalentTo"} +xref: UMLS:C4748997 {source="OMIM:618287"} +is_a: MONDO:0003847 {source="OMIM:618287"} ! inherited genetic disease + +[Term] +id: MONDO:0032660 +name: spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant +synonym: "SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT; SMALED2B" RELATED [OMIM:618291] +xref: OMIM:618291 {source="MONDO:equivalentTo"} +xref: UMLS:C4749003 {source="OMIM:618291"} +is_a: MONDO:0003847 {source="OMIM:618291"} ! inherited genetic disease +is_a: MONDO:0018190 {source="OMIM:618291"} ! autosomal dominant childhood-onset proximal spinal muscular atrophy + +[Term] +id: MONDO:0032661 +name: neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia +synonym: "NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA; NEDIDHA" RELATED [OMIM:618292] +xref: OMIM:618292 {source="MONDO:equivalentTo"} +xref: Orphanet:528084 {source="OMIM:618292"} +xref: UMLS:C4749014 {source="OMIM:618292"} +is_a: MONDO:0003847 {source="OMIM:618292"} ! inherited genetic disease + +[Term] +id: MONDO:0032662 +name: intellectual developmental disorder, autosomal recessive 67 +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67; MRT67" RELATED [OMIM:618295] +synonym: "Mental Retardation, Autosomal Recessive 67" RELATED [OMIM:618295] +xref: OMIM:618295 {source="MONDO:equivalentTo"} +xref: UMLS:C4749019 {source="OMIM:618295"} +is_a: MONDO:0003847 {source="OMIM:618295"} ! inherited genetic disease +is_a: MONDO:0019502 {source="OMIM:618295"} ! autosomal recessive non-syndromic intellectual disability + +[Term] +id: MONDO:0032663 +name: epileptic encephalopathy, early infantile, 70 +synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70; EIEE70" RELATED [OMIM:618298] +xref: OMIM:618298 {source="MONDO:equivalentTo"} +xref: Orphanet:3451 {source="OMIM:618298"} +xref: UMLS:C4749023 {source="OMIM:618298"} +is_a: MONDO:0003847 {source="OMIM:618298"} ! inherited genetic disease +is_a: MONDO:0016021 {source="OMIM:618298"} ! early infantile epileptic encephalopathy + +[Term] +id: MONDO:0032664 +name: ciliary dyskinesia, primary, 40 +synonym: "Ciliary Dyskinesia, Primary, 40, With or Without Situs Inversus" RELATED [OMIM:618300] +synonym: "CILIARY DYSKINESIA, PRIMARY, 40; CILD40" RELATED [OMIM:618300] +xref: OMIM:618300 {source="MONDO:equivalentTo"} +xref: UMLS:C4749028 {source="OMIM:618300"} +is_a: MONDO:0003847 {source="OMIM:618300"} ! inherited genetic disease +is_a: MONDO:0016575 {source="OMIM:618300"} ! primary ciliary dyskinesia + +[Term] +id: MONDO:0032665 +name: intellectual developmental disorder, autosomal recessive 68 +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68; MRT68" RELATED [OMIM:618302] +synonym: "Mental Retardation, Autosomal Recessive 68" RELATED [OMIM:618302] +xref: OMIM:618302 {source="MONDO:equivalentTo"} +xref: UMLS:C4749033 {source="OMIM:618302"} +is_a: MONDO:0003847 {source="OMIM:618302"} ! inherited genetic disease +is_a: MONDO:0019502 {source="OMIM:618302"} ! autosomal recessive non-syndromic intellectual disability + +[Term] +id: MONDO:0032666 +name: epidermodysplasia verruciformis, susceptibility to, 4 +synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4; EV4" RELATED [OMIM:618307] +xref: OMIM:618307 {source="MONDO:equivalentTo"} +xref: Orphanet:324294 {source="OMIM:618307"} +xref: UMLS:C4749042 {source="OMIM:618307"} +is_a: MONDO:0003847 {source="OMIM:618307"} ! inherited genetic disease +is_a: MONDO:0009176 {source="OMIM:618307"} ! epidermodysplasia verruciformis + +[Term] +id: MONDO:0032667 +name: epidermodysplasia verruciformis, susceptibility to, 5 +synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5" RELATED [OMIM:618309] +xref: OMIM:618309 {source="MONDO:equivalentTo"} +xref: Orphanet:302 {source="OMIM:618309"} +xref: UMLS:C4749043 {source="OMIM:618309"} +is_a: MONDO:0003847 {source="OMIM:618309"} ! inherited genetic disease +is_a: MONDO:0009176 {source="OMIM:618309"} ! epidermodysplasia verruciformis + +[Term] +id: MONDO:0032668 +name: diamond-blackfan anemia 18 +synonym: "DIAMOND-BLACKFAN ANEMIA 18; DBA18" RELATED [OMIM:618310] +xref: OMIM:618310 {source="MONDO:equivalentTo"} +xref: Orphanet:124 {source="OMIM:618310"} +xref: UMLS:C5193020 {source="OMIM:618310"} +is_a: MONDO:0003847 {source="OMIM:618310"} ! inherited genetic disease +is_a: MONDO:0015253 {source="OMIM:618310"} ! Diamond-Blackfan anemia + +[Term] +id: MONDO:0032669 +name: diamond-blackfan anemia 19 +synonym: "DIAMOND-BLACKFAN ANEMIA 19; DBA19" RELATED [OMIM:618312] +xref: OMIM:618312 {source="MONDO:equivalentTo"} +xref: Orphanet:124 {source="OMIM:618312"} +xref: UMLS:C5193021 {source="OMIM:618312"} +is_a: MONDO:0003847 {source="OMIM:618312"} ! inherited genetic disease +is_a: MONDO:0015253 {source="OMIM:618312"} ! Diamond-Blackfan anemia + +[Term] +id: MONDO:0032670 +name: diamond-blackfan anemia 20 +synonym: "DIAMOND-BLACKFAN ANEMIA 20; DBA20" RELATED [OMIM:618313] +xref: OMIM:618313 {source="MONDO:equivalentTo"} +xref: Orphanet:124 {source="OMIM:618313"} +xref: UMLS:C5193022 {source="OMIM:618313"} +is_a: MONDO:0003847 {source="OMIM:618313"} ! inherited genetic disease +is_a: MONDO:0015253 {source="OMIM:618313"} ! Diamond-Blackfan anemia + +[Term] +id: MONDO:0032672 +name: intellectual developmental disorder with cardiac defects and dysmorphic facies +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES; IDDCDF" RELATED [OMIM:618316] +xref: OMIM:618316 {source="MONDO:equivalentTo"} +xref: Orphanet:562569 {source="OMIM:618316"} +xref: UMLS:C5193024 {source="OMIM:618316"} +is_a: MONDO:0003847 {source="OMIM:618316"} ! inherited genetic disease + +[Term] +id: MONDO:0032673 +name: basal ganglia calcification, idiopathic, 7, autosomal recessive +synonym: "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE; IBGC7" RELATED [OMIM:618317] +xref: OMIM:618317 {source="MONDO:equivalentTo"} +xref: UMLS:C5193025 {source="OMIM:618317"} +is_a: MONDO:0003847 {source="OMIM:618317"} ! inherited genetic disease +is_a: MONDO:0008947 {source="OMIM:618317"} ! bilateral striopallidodentate calcinosis + +[Term] +id: MONDO:0032675 +name: myasthenic syndrome, congenital, 25, presynaptic +synonym: "MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC; CMS25" RELATED [OMIM:618323] +xref: OMIM:618323 {source="MONDO:equivalentTo"} +xref: Orphanet:98914 {source="OMIM:618323"} +xref: UMLS:C5193027 {source="OMIM:618323"} +is_a: MONDO:0003847 {source="OMIM:618323"} ! inherited genetic disease +is_a: MONDO:0018940 {source="OMIM:618323"} ! congenital myasthenic syndrome + +[Term] +id: MONDO:0032677 +name: lissencephaly 9 with complex brainstem malformation +synonym: "LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION; LIS9" RELATED [OMIM:618325] +xref: OMIM:618325 {source="MONDO:equivalentTo"} +xref: UMLS:C5193029 {source="OMIM:618325"} +is_a: MONDO:0003847 {source="OMIM:618325"} ! inherited genetic disease +is_a: MONDO:0018838 {source="OMIM:618325"} ! lissencephaly spectrum disorders + +[Term] +id: MONDO:0032678 +name: epileptic encephalopathy, early infantile, 71 +synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71; EIEE71" RELATED [OMIM:618328] +synonym: "Glutaminase Deficiency With Neonatal Epileptic Encephalopathy" RELATED [OMIM:618328] +xref: OMIM:618328 {source="MONDO:equivalentTo"} +xref: Orphanet:557064 {source="OMIM:618328"} +xref: UMLS:C5193030 {source="OMIM:618328"} +is_a: MONDO:0003847 {source="OMIM:618328"} ! inherited genetic disease +is_a: MONDO:0016021 {source="OMIM:618328"} ! early infantile epileptic encephalopathy + +[Term] +id: MONDO:0032679 +name: combined oxidative phosphorylation deficiency 37 +synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37" RELATED [OMIM:618329] +xref: OMIM:618329 {source="MONDO:equivalentTo"} +xref: UMLS:C5193031 {source="OMIM:618329"} +is_a: MONDO:0000732 {source="OMIM:618329"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0003847 {source="OMIM:618329"} ! inherited genetic disease + +[Term] +id: MONDO:0032680 +name: global developmental delay with or without impaired intellectual development +synonym: "GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT; GDDI" RELATED [OMIM:618330] +xref: OMIM:618330 {source="MONDO:equivalentTo"} +xref: Orphanet:178469 {source="OMIM:618330"} +xref: UMLS:C5193032 {source="OMIM:618330"} +is_a: MONDO:0003847 {source="OMIM:618330"} ! inherited genetic disease + +[Term] +id: MONDO:0032681 +name: encephalopathy, progressive, early-onset, with episodic rhabdomyolysis +synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS; PEERB" RELATED [OMIM:618331] +xref: OMIM:618331 {source="MONDO:equivalentTo"} +xref: UMLS:C5193033 {source="OMIM:618331"} +is_a: MONDO:0003847 {source="OMIM:618331"} ! inherited genetic disease + +[Term] +id: MONDO:0032684 +name: intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +synonym: "Imagei Syndrome" RELATED [OMIM:618336] +synonym: "INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY; IMAGEI" RELATED [OMIM:618336] +xref: OMIM:618336 {source="MONDO:equivalentTo"} +xref: UMLS:C5193036 {source="OMIM:618336"} +is_a: MONDO:0003847 {source="OMIM:618336"} ! inherited genetic disease + +[Term] +id: MONDO:0032685 +name: infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development +synonym: "INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT; CASGID" RELATED [OMIM:618339] +xref: OMIM:618339 {source="MONDO:equivalentTo"} +xref: UMLS:C5193037 {source="OMIM:618339"} +is_a: MONDO:0003847 {source="OMIM:618339"} ! inherited genetic disease + +[Term] +id: MONDO:0032686 +name: spermatogenic failure 35 +synonym: "SPERMATOGENIC FAILURE 35; SPGF35" RELATED [OMIM:618341] +xref: OMIM:618341 {source="MONDO:equivalentTo"} +xref: UMLS:C5193038 {source="OMIM:618341"} +is_a: MONDO:0003847 {source="OMIM:618341"} ! inherited genetic disease +is_a: MONDO:0004983 {source="OMIM:618341"} ! azoospermia + +[Term] +id: MONDO:0032687 +name: intellectual developmental disorder with abnormal behavior, microcephaly, and short stature +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE; IDDABS" RELATED [OMIM:618342] +xref: OMIM:618342 {source="MONDO:equivalentTo"} +xref: UMLS:C5193039 {source="OMIM:618342"} +is_a: MONDO:0003847 {source="OMIM:618342"} ! inherited genetic disease + +[Term] +id: MONDO:0032688 +name: polymicrogyria with or without vascular-type ehlers-danlos syndrome +synonym: "POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME; PMGEDSV" RELATED [OMIM:618343] +xref: OMIM:618343 {source="MONDO:equivalentTo"} +xref: UMLS:C5193040 {source="OMIM:618343"} +is_a: MONDO:0003847 {source="OMIM:618343"} ! inherited genetic disease + +[Term] +id: MONDO:0032689 +name: retinitis pigmentosa 85 +synonym: "RETINITIS PIGMENTOSA 85; RP85" RELATED [OMIM:618345] +xref: OMIM:618345 {source="MONDO:equivalentTo"} +xref: Orphanet:791 {source="OMIM:618345"} +xref: UMLS:C5193041 {source="OMIM:618345"} +is_a: MONDO:0003847 {source="OMIM:618345"} ! inherited genetic disease +is_a: MONDO:0019200 {source="OMIM:618345"} ! retinitis pigmentosa + +[Term] +id: MONDO:0032690 +name: microcephaly, growth deficiency, seizures, and brain malformations +synonym: "MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS; MIGSB" RELATED [OMIM:618346] +xref: OMIM:618346 {source="MONDO:equivalentTo"} +xref: UMLS:C5193042 {source="OMIM:618346"} +is_a: MONDO:0003847 {source="OMIM:618346"} ! inherited genetic disease + +[Term] +id: MONDO:0032691 +name: Galloway-Mowat syndrome 6 +synonym: "GALLOWAY-MOWAT SYNDROME 6; GAMOS6" RELATED [OMIM:618347] +xref: OMIM:618347 {source="MONDO:equivalentTo"} +xref: Orphanet:2065 {source="OMIM:618347"} +xref: UMLS:C5193043 {source="OMIM:618347"} +is_a: MONDO:0003847 {source="OMIM:618347"} ! inherited genetic disease +is_a: MONDO:0009627 {source="OMIM:618347"} ! Galloway-Mowat syndrome + +[Term] +id: MONDO:0032692 +name: Galloway-Mowat syndrome 7 +synonym: "GALLOWAY-MOWAT SYNDROME 7; GAMOS7" RELATED [OMIM:618348] +xref: OMIM:618348 {source="MONDO:equivalentTo"} +xref: Orphanet:2065 {source="OMIM:618348"} +xref: UMLS:C5193044 {source="OMIM:618348"} +is_a: MONDO:0003847 {source="OMIM:618348"} ! inherited genetic disease +is_a: MONDO:0009627 {source="OMIM:618348"} ! Galloway-Mowat syndrome + +[Term] +id: MONDO:0032693 +name: Galloway-Mowat syndrome 8 +synonym: "GALLOWAY-MOWAT SYNDROME 8; GAMOS8" RELATED [OMIM:618349] +xref: OMIM:618349 {source="MONDO:equivalentTo"} +xref: Orphanet:2065 {source="OMIM:618349"} +xref: UMLS:C5193045 {source="OMIM:618349"} +is_a: MONDO:0003847 {source="OMIM:618349"} ! inherited genetic disease +is_a: MONDO:0009627 {source="OMIM:618349"} ! Galloway-Mowat syndrome + +[Term] +id: MONDO:0032694 +name: microcephaly 25, primary, autosomal recessive +synonym: "MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE; MCPH25" RELATED [OMIM:618351] +xref: OMIM:618351 {source="MONDO:equivalentTo"} +xref: UMLS:C5193046 {source="OMIM:618351"} +is_a: MONDO:0003847 {source="OMIM:618351"} ! inherited genetic disease +is_a: MONDO:0016660 {source="OMIM:618351"} ! autosomal recessive primary microcephaly + +[Term] +id: MONDO:0032696 +name: oocyte maturation defect 6 +synonym: "OOCYTE MATURATION DEFECT 6; OOMD6" RELATED [OMIM:618353] +xref: OMIM:618353 {source="MONDO:equivalentTo"} +xref: Orphanet:404466 {source="OMIM:618353"} +xref: UMLS:C5193047 {source="OMIM:618353"} +is_a: MONDO:0003847 {source="OMIM:618353"} ! inherited genetic disease +is_a: MONDO:0014769 {source="OMIM:618353"} ! inherited oocyte maturation defect + +[Term] +id: MONDO:0032697 +name: neurodevelopmental disorder and language delay with or without structural brain abnormalities +synonym: "NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES; NEDLBA" RELATED [OMIM:618354] +xref: OMIM:618354 {source="MONDO:equivalentTo"} +xref: UMLS:C5193048 {source="OMIM:618354"} +is_a: MONDO:0003847 {source="OMIM:618354"} ! inherited genetic disease + +[Term] +id: MONDO:0032698 +name: neurodevelopmental disorder with central and peripheral motor dysfunction +synonym: "NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION; NEDCPMD" RELATED [OMIM:618356] +xref: OMIM:618356 {source="MONDO:equivalentTo"} +xref: UMLS:C5193049 {source="OMIM:618356"} +is_a: MONDO:0003847 {source="OMIM:618356"} ! inherited genetic disease + +[Term] +id: MONDO:0032699 +name: epilepsy, idiopathic generalized, susceptibility to, 15 +synonym: "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15; EIG15" RELATED [OMIM:618357] +xref: OMIM:618357 {source="MONDO:equivalentTo"} +xref: UMLS:C5193050 {source="OMIM:618357"} +is_a: MONDO:0003847 {source="OMIM:618357"} ! inherited genetic disease +is_a: MONDO:0005579 {source="OMIM:618357"} ! epilepsy, idiopathic generalized + +[Term] +id: MONDO:0032702 +name: coffin-siris syndrome 8 +synonym: "COFFIN-SIRIS SYNDROME 8; CSS8" RELATED [OMIM:618362] +xref: OMIM:618362 {source="MONDO:equivalentTo"} +xref: Orphanet:1465 {source="OMIM:618362"} +xref: UMLS:C5193054 {source="OMIM:618362"} +is_a: MONDO:0003847 {source="OMIM:618362"} ! inherited genetic disease +is_a: MONDO:0015452 {source="OMIM:618362"} ! Coffin-Siris syndrome +is_a: MONDO:0015802 {source="OMIM:618362"} ! autosomal dominant non-syndromic intellectual disability + +[Term] +id: MONDO:0032703 +name: short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis +synonym: "SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS; SSASKS" RELATED [OMIM:618363] +xref: OMIM:618363 {source="MONDO:equivalentTo"} +xref: UMLS:C5193055 {source="OMIM:618363"} +is_a: MONDO:0003847 {source="OMIM:618363"} ! inherited genetic disease + +[Term] +id: MONDO:0032705 +name: neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination +synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION; NEDMEHM" RELATED [OMIM:618367] +xref: OMIM:618367 {source="MONDO:equivalentTo"} +xref: UMLS:C5193057 {source="OMIM:618367"} +is_a: MONDO:0003847 {source="OMIM:618367"} ! inherited genetic disease + +[Term] +id: MONDO:0032706 +name: spinocerebellar ataxia, autosomal recessive 27 +synonym: "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27; SCAR27" RELATED [OMIM:618369] +xref: OMIM:618369 {source="MONDO:equivalentTo"} +xref: UMLS:C5193058 {source="OMIM:618369"} +is_a: MONDO:0003847 {source="OMIM:618369"} ! inherited genetic disease +is_a: MONDO:0015244 {source="OMIM:618369"} ! autosomal recessive cerebellar ataxia + +[Term] +id: MONDO:0032707 +name: turnpenny-fry syndrome +synonym: "Neurocardioskeletal Syndrome" RELATED [OMIM:618371] +synonym: "TURNPENNY-FRY SYNDROME; TPFS" RELATED [OMIM:618371] +xref: OMIM:618371 {source="MONDO:equivalentTo"} +xref: UMLS:C5193060 {source="OMIM:618371"} +is_a: MONDO:0003847 {source="OMIM:618371"} ! inherited genetic disease + +[Term] +id: MONDO:0032710 +name: epileptic encephalopathy, early infantile, 72 +synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72; EIEE72" RELATED [OMIM:618374] +xref: OMIM:618374 {source="MONDO:equivalentTo"} +xref: UMLS:C5193063 {source="OMIM:618374"} +is_a: MONDO:0003847 {source="OMIM:618374"} ! inherited genetic disease +is_a: MONDO:0016021 {source="OMIM:618374"} ! early infantile epileptic encephalopathy + +[Term] +id: MONDO:0032712 +name: combined oxidative phosphorylation deficiency 38 +synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38; COXPD38" RELATED [OMIM:618378] +xref: OMIM:618378 {source="MONDO:equivalentTo"} +xref: UMLS:C5193064 {source="OMIM:618378"} +is_a: MONDO:0000732 {source="OMIM:618378"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0003847 {source="OMIM:618378"} ! inherited genetic disease + +[Term] +id: MONDO:0032714 +name: facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome +synonym: "FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME; FHEIG" RELATED [OMIM:618381] +xref: OMIM:618381 {source="MONDO:equivalentTo"} +xref: UMLS:C5193066 {source="OMIM:618381"} +is_a: MONDO:0003847 {source="OMIM:618381"} ! inherited genetic disease + +[Term] +id: MONDO:0032715 +name: intellectual developmental disorder, autosomal recessive 69 +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69; MRT69" RELATED [OMIM:618383] +synonym: "Mental Retardation, Autosomal Recessive 69" RELATED [OMIM:618383] +xref: OMIM:618383 {source="MONDO:equivalentTo"} +xref: UMLS:C5193067 {source="OMIM:618383"} +is_a: MONDO:0003847 {source="OMIM:618383"} ! inherited genetic disease +is_a: MONDO:0019502 {source="OMIM:618383"} ! autosomal recessive non-syndromic intellectual disability + +[Term] +id: MONDO:0032716 +name: leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate +synonym: "LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE; ARLIAK" RELATED [OMIM:618384] +xref: OMIM:618384 {source="MONDO:equivalentTo"} +xref: UMLS:C5193068 {source="OMIM:618384"} +is_a: MONDO:0003847 {source="OMIM:618384"} ! inherited genetic disease + +[Term] +id: MONDO:0032717 +name: amelogenesis imperfecta, type 3c +synonym: "Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive" RELATED [OMIM:618386] +synonym: "AMELOGENESIS IMPERFECTA, TYPE IIIC; AI3C" RELATED [OMIM:618386] +xref: OMIM:618386 {source="MONDO:equivalentTo"} +xref: UMLS:C5193069 {source="OMIM:618386"} +is_a: MONDO:0003847 {source="OMIM:618386"} ! inherited genetic disease +is_a: MONDO:0019507 {source="OMIM:618386"} ! amelogenesis imperfecta + +[Term] +id: MONDO:0032721 +name: spondyloepiphyseal dysplasia, kondo-fu type +synonym: "Sed With Elevated Blood Lysosomal Enzymes" RELATED [OMIM:618392] +synonym: "SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE; SEDKF" RELATED [OMIM:618392] +xref: OMIM:618392 {source="MONDO:equivalentTo"} +xref: UMLS:C5193071 {source="OMIM:618392"} +is_a: MONDO:0003847 {source="OMIM:618392"} ! inherited genetic disease + +[Term] +id: MONDO:0032723 +name: immunodeficiency 60 +synonym: "IMMUNODEFICIENCY 60; IMD60" RELATED [OMIM:618394] +synonym: "Immunodeficiency and Autoimmunity, Bach2-Related" RELATED [OMIM:618394] +xref: OMIM:618394 {source="MONDO:equivalentTo"} +xref: UMLS:C5193072 {source="OMIM:618394"} +is_a: MONDO:0003847 {source="OMIM:618394"} ! inherited genetic disease +is_a: MONDO:0021094 {source="OMIM:618394"} ! immunodeficiency disease + +[Term] +id: MONDO:0032724 +name: spondyloepimetaphyseal dysplasia with joint laxity, type 3 +synonym: "SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3; SEMDJL3" RELATED [OMIM:618395] +xref: OMIM:618395 {source="MONDO:equivalentTo"} +xref: Orphanet:93359 {source="OMIM:618395"} +xref: UMLS:C5193073 {source="OMIM:618395"} +is_a: MONDO:0003847 {source="OMIM:618395"} ! inherited genetic disease +is_a: MONDO:0019675 {source="OMIM:618395"} ! spondyloepimetaphyseal dysplasia with joint laxity + +[Term] +id: MONDO:0032725 +name: epileptic encephalopathy, early infantile, 74 +synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74; EIEE74" RELATED [OMIM:618396] +xref: OMIM:618396 {source="MONDO:equivalentTo"} +xref: Orphanet:442835 {source="OMIM:618396"} +xref: UMLS:C5193074 {source="OMIM:618396"} +is_a: MONDO:0003847 {source="OMIM:618396"} ! inherited genetic disease +is_a: MONDO:0016021 {source="OMIM:618396"} ! early infantile epileptic encephalopathy + +[Term] +id: MONDO:0032726 +name: combined oxidative phosphorylation deficiency 39 +synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39; COXPD39" RELATED [OMIM:618397] +xref: OMIM:618397 {source="MONDO:equivalentTo"} +xref: Orphanet:565624 {source="OMIM:618397"} +xref: UMLS:C5193075 {source="OMIM:618397"} +is_a: MONDO:0000732 {source="OMIM:618397"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0003847 {source="OMIM:618397"} ! inherited genetic disease + +[Term] +id: MONDO:0032728 +name: charcot-marie-tooth disease, axonal, type 2ee +synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE; CMT2EE" RELATED [OMIM:618400] +synonym: "Charcot-Marie-Tooth Neuropathy, Type 2Ee" RELATED [OMIM:618400] +xref: OMIM:618400 {source="MONDO:equivalentTo"} +xref: UMLS:C5193076 {source="OMIM:618400"} +is_a: MONDO:0003847 {source="OMIM:618400"} ! inherited genetic disease +is_a: MONDO:0015626 {source="OMIM:618400"} ! Charcot-Marie-Tooth disease +is_a: MONDO:0018993 {source="MONDO:cjm"} ! Charcot-Marie-Tooth disease type 2 + +[Term] +id: MONDO:0032729 +name: intellectual developmental disorder, autosomal recessive 70 +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70; MRT70" RELATED [OMIM:618402] +synonym: "Mental Retardation, Autosomal Recessive 70" RELATED [OMIM:618402] +xref: OMIM:618402 {source="MONDO:equivalentTo"} +xref: Orphanet:88616 {source="OMIM:618402"} +xref: UMLS:C5193077 {source="OMIM:618402"} +is_a: MONDO:0003847 {source="OMIM:618402"} ! inherited genetic disease +is_a: MONDO:0019502 {source="OMIM:618402"} ! autosomal recessive non-syndromic intellectual disability + +[Term] +id: MONDO:0032730 +name: leukodystrophy, hypomyelinating, 18 +synonym: "LEUKODYSTROPHY, HYPOMYELINATING, 18; HLD18" RELATED [OMIM:618404] +xref: OMIM:618404 {source="MONDO:equivalentTo"} +xref: UMLS:C5193078 {source="OMIM:618404"} +is_a: MONDO:0003847 {source="OMIM:618404"} ! inherited genetic disease +is_a: MONDO:0019046 {source="OMIM:618404"} ! leukodystrophy + +[Term] +id: MONDO:0032732 +name: deafness, autosomal recessive 113 +synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 113; DFNB113" RELATED [OMIM:618410] +xref: OMIM:618410 {source="MONDO:equivalentTo"} +xref: Orphanet:90635 {source="OMIM:618410"} +xref: Orphanet:90636 {source="OMIM:618410"} +xref: UMLS:C5193079 {source="OMIM:618410"} +is_a: MONDO:0003847 {source="OMIM:618410"} ! inherited genetic disease +is_a: MONDO:0019588 {source="OMIM:618410"} ! autosomal recessive nonsyndromic deafness + +[Term] +id: MONDO:0032733 +name: global developmental delay, progressive ataxia, and elevated glutamine +synonym: "GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE; GDPAG" RELATED [OMIM:618412] +synonym: "Glutaminase Deficiency With Impaired Intellectual Development and Progressive Ataxia" RELATED [OMIM:618412] +xref: OMIM:618412 {source="MONDO:equivalentTo"} +xref: UMLS:C5193080 {source="OMIM:618412"} +is_a: MONDO:0003847 {source="OMIM:618412"} ! inherited genetic disease + +[Term] +id: MONDO:0032735 +name: cataract 48 +synonym: "CATARACT 48; CTRCT48" RELATED [OMIM:618415] +xref: OMIM:618415 {source="MONDO:equivalentTo"} +xref: Orphanet:98994 {source="OMIM:618415"} +xref: UMLS:C5193082 {source="OMIM:618415"} +is_a: MONDO:0003847 {source="OMIM:618415"} ! inherited genetic disease +is_a: MONDO:0005129 {source="OMIM:618415"} ! cataract (disease) + +[Term] +id: MONDO:0032736 +name: metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression +synonym: "METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION; MECREN" RELATED [OMIM:618416] +xref: OMIM:618416 {source="MONDO:equivalentTo"} +xref: UMLS:C5193083 {source="OMIM:618416"} +is_a: MONDO:0003847 {source="OMIM:618416"} ! inherited genetic disease + +[Term] +id: MONDO:0032737 +name: spastic paraplegia 80, autosomal dominant +synonym: "SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT; SPG80" RELATED [OMIM:618418] +xref: OMIM:618418 {source="MONDO:equivalentTo"} +xref: UMLS:C5193084 {source="OMIM:618418"} +is_a: MONDO:0003847 {source="OMIM:618418"} ! inherited genetic disease +is_a: MONDO:0019064 {source="OMIM:618418"} ! hereditary spastic paraplegia + +[Term] +id: MONDO:0032738 +name: gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy +synonym: "GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY; GDRM" RELATED [OMIM:618419] +xref: OMIM:618419 {source="MONDO:equivalentTo"} +xref: UMLS:C5193085 {source="OMIM:618419"} +is_a: MONDO:0003847 {source="OMIM:618419"} ! inherited genetic disease + +[Term] +id: MONDO:0032739 +name: spermatogenic failure 36 +synonym: "SPERMATOGENIC FAILURE 36; SPGF36" RELATED [OMIM:618420] +xref: OMIM:618420 {source="MONDO:equivalentTo"} +xref: UMLS:C5193086 {source="OMIM:618420"} +is_a: MONDO:0003847 {source="OMIM:618420"} ! inherited genetic disease +is_a: MONDO:0004983 {source="OMIM:618420"} ! azoospermia + +[Term] +id: MONDO:0032740 +name: deafness, autosomal recessive 100 +synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 100; DFNB100" RELATED [OMIM:618422] +xref: OMIM:618422 {source="MONDO:equivalentTo"} +xref: Orphanet:90636 {source="OMIM:618422"} +xref: UMLS:C5193087 {source="OMIM:618422"} +is_a: MONDO:0003847 {source="OMIM:618422"} ! inherited genetic disease +is_a: MONDO:0019588 {source="OMIM:618422"} ! autosomal recessive nonsyndromic deafness + +[Term] +id: MONDO:0032741 +name: neurodevelopmental disorder with impaired speech and hyperkinetic movements +synonym: "NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS; NEDISHM" RELATED [OMIM:618425] +xref: OMIM:618425 {source="MONDO:equivalentTo"} +xref: UMLS:C5193088 {source="OMIM:618425"} +is_a: MONDO:0003847 {source="OMIM:618425"} ! inherited genetic disease + +[Term] +id: MONDO:0032742 +name: encephalopathy, acute, infection-induced, susceptibility to, 9 +synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9; IIAE9" RELATED [OMIM:618426] +xref: OMIM:618426 {source="MONDO:equivalentTo"} +xref: UMLS:C5193089 {source="OMIM:618426"} +is_a: MONDO:0000166 {source="OMIM:618426"} ! encephalopathy, acute, infection-induced +is_a: MONDO:0003847 {source="OMIM:618426"} ! inherited genetic disease + +[Term] +id: MONDO:0032744 +name: spermatogenic failure 37 +synonym: "SPERMATOGENIC FAILURE 37; SPGF37" RELATED [OMIM:618429] +xref: OMIM:618429 {source="MONDO:equivalentTo"} +xref: Orphanet:276234 {source="OMIM:618429"} +xref: UMLS:C5193091 {source="OMIM:618429"} +is_a: MONDO:0003847 {source="OMIM:618429"} ! inherited genetic disease +is_a: MONDO:0004983 {source="OMIM:618429"} ! azoospermia + +[Term] +id: MONDO:0032745 +name: developmental delay with variable intellectual impairment and behavioral abnormalities +synonym: "DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; DDVIBA" RELATED [OMIM:618430] +xref: OMIM:618430 {source="MONDO:equivalentTo"} +xref: Orphanet:528084 {source="OMIM:618430"} +xref: UMLS:C5193092 {source="OMIM:618430"} +is_a: MONDO:0003847 {source="OMIM:618430"} ! inherited genetic disease + +[Term] +id: MONDO:0032746 +name: hydatidiform mole, recurrent, 3 +synonym: "HYDATIDIFORM MOLE, RECURRENT, 3; HYDM3" RELATED [OMIM:618431] +xref: OMIM:618431 {source="MONDO:equivalentTo"} +xref: Orphanet:254688 {source="OMIM:618431"} +xref: UMLS:C5193093 {source="OMIM:618431"} +is_a: MONDO:0003847 {source="OMIM:618431"} ! inherited genetic disease +is_a: MONDO:0006248 {source="OMIM:618431"} ! hydatidiform mole + +[Term] +id: MONDO:0032747 +name: hydatidiform mole, recurrent, 4 +synonym: "HYDATIDIFORM MOLE, RECURRENT, 4; HYDM4" RELATED [OMIM:618432] +xref: OMIM:618432 {source="MONDO:equivalentTo"} +xref: Orphanet:254688 {source="OMIM:618432"} +xref: UMLS:C5193094 {source="OMIM:618432"} +is_a: MONDO:0003847 {source="OMIM:618432"} ! inherited genetic disease +is_a: MONDO:0006248 {source="OMIM:618432"} ! hydatidiform mole + +[Term] +id: MONDO:0032748 +name: spermatogenic failure 38 +synonym: "SPERMATOGENIC FAILURE 38; SPGF38" RELATED [OMIM:618433] +xref: OMIM:618433 {source="MONDO:equivalentTo"} +xref: Orphanet:276234 {source="OMIM:618433"} +xref: UMLS:C5193095 {source="OMIM:618433"} +is_a: MONDO:0003847 {source="OMIM:618433"} ! inherited genetic disease +is_a: MONDO:0004983 {source="OMIM:618433"} ! azoospermia + +[Term] +id: MONDO:0032749 +name: deafness, autosomal recessive 94 +synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 94; DFNB94" RELATED [OMIM:618434] +xref: OMIM:618434 {source="MONDO:equivalentTo"} +xref: Orphanet:90636 {source="OMIM:618434"} +xref: UMLS:C5193096 {source="OMIM:618434"} +is_a: MONDO:0003847 {source="OMIM:618434"} ! inherited genetic disease +is_a: MONDO:0019588 {source="OMIM:618434"} ! autosomal recessive nonsyndromic deafness + +[Term] +id: MONDO:0032750 +name: arthrogryposis, distal, type 2b2 +synonym: "ARTHROGRYPOSIS, DISTAL, TYPE 2B2; DA2B2" RELATED [OMIM:618435] +xref: OMIM:618435 {source="MONDO:equivalentTo"} +xref: Orphanet:1146 {source="OMIM:618435"} +xref: UMLS:C5193097 {source="OMIM:618435"} +is_a: MONDO:0003847 {source="OMIM:618435"} ! inherited genetic disease +is_a: MONDO:0019942 {source="OMIM:618435"} ! distal arthrogryposis + +[Term] +id: MONDO:0032751 +name: arthrogryposis, distal, type 2b3 +synonym: "ARTHROGRYPOSIS, DISTAL, TYPE 2B3; DA2B3" RELATED [OMIM:618436] +xref: OMIM:618436 {source="MONDO:equivalentTo"} +xref: Orphanet:2053 {source="OMIM:618436"} +xref: UMLS:C5193098 {source="OMIM:618436"} +is_a: MONDO:0003847 {source="OMIM:618436"} ! inherited genetic disease +is_a: MONDO:0019942 {source="OMIM:618436"} ! distal arthrogryposis + +[Term] +id: MONDO:0032752 +name: epileptic encephalopathy, early infantile, 75 +synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75; EIEE75" RELATED [OMIM:618437] +xref: OMIM:618437 {source="MONDO:equivalentTo"} +xref: Orphanet:442835 {source="OMIM:618437"} +xref: UMLS:C5193099 {source="OMIM:618437"} +is_a: MONDO:0003847 {source="OMIM:618437"} ! inherited genetic disease +is_a: MONDO:0016021 {source="OMIM:618437"} ! early infantile epileptic encephalopathy + +[Term] +id: MONDO:0032753 +name: spastic ataxia 9, autosomal recessive +synonym: "SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE; SPAX9" RELATED [OMIM:618438] +xref: OMIM:618438 {source="MONDO:equivalentTo"} +xref: UMLS:C5193100 {source="OMIM:618438"} +is_a: MONDO:0003847 {source="OMIM:618438"} ! inherited genetic disease +is_a: MONDO:0017845 {source="OMIM:618438"} ! spastic ataxia + +[Term] +id: MONDO:0032755 +name: neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +synonym: "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES; NEDBA" RELATED [OMIM:618443] +xref: OMIM:618443 {source="MONDO:equivalentTo"} +xref: UMLS:C5193102 {source="OMIM:618443"} +is_a: MONDO:0003847 {source="OMIM:618443"} ! inherited genetic disease + +[Term] +id: MONDO:0032756 +name: long qt syndrome 8 +synonym: "LONG QT SYNDROME 8; LQT8" RELATED [OMIM:618447] +xref: OMIM:618447 {source="MONDO:equivalentTo"} +xref: Orphanet:65283 {source="OMIM:618447"} +xref: Orphanet:768 {source="OMIM:618447"} +xref: UMLS:C1832916 {source="OMIM:618447"} +is_a: MONDO:0003847 {source="OMIM:618447"} ! inherited genetic disease +is_a: MONDO:0019171 {source="OMIM:618447"} ! familial long QT syndrome + +[Term] +id: MONDO:0032757 +name: ciliary dyskinesia, primary, 41 +synonym: "CILIARY DYSKINESIA, PRIMARY, 41; CILD41" RELATED [OMIM:618449] +xref: OMIM:618449 {source="MONDO:equivalentTo"} +xref: Orphanet:244 {source="OMIM:618449"} +xref: UMLS:C5193103 {source="OMIM:618449"} +is_a: MONDO:0003847 {source="OMIM:618449"} ! inherited genetic disease +is_a: MONDO:0016575 {source="OMIM:618449"} ! primary ciliary dyskinesia + +[Term] +id: MONDO:0032758 +name: neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia +synonym: "NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA; NDCAMA" RELATED [OMIM:618451] +xref: OMIM:618451 {source="MONDO:equivalentTo"} +xref: UMLS:C5193104 {source="OMIM:618451"} +is_a: MONDO:0003847 {source="OMIM:618451"} ! inherited genetic disease + +[Term] +id: MONDO:0032759 +name: intellectual developmental disorder with short stature and variable skeletal anomalies +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES; IDDSSA" RELATED [OMIM:618453] +xref: OMIM:618453 {source="MONDO:equivalentTo"} +xref: UMLS:C5193105 {source="OMIM:618453"} +is_a: MONDO:0003847 {source="OMIM:618453"} ! inherited genetic disease + +[Term] +id: MONDO:0032760 +name: developmental delay with or without dysmorphic facies and autism +synonym: "DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM; DEDDFA" RELATED [OMIM:618454] +xref: OMIM:618454 {source="MONDO:equivalentTo"} +xref: UMLS:C5193106 {source="OMIM:618454"} +is_a: MONDO:0003847 {source="OMIM:618454"} ! inherited genetic disease + +[Term] +id: MONDO:0032761 +name: deafness, autosomal recessive 114 +synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 114; DFNB114" RELATED [OMIM:618456] +xref: OMIM:618456 {source="MONDO:equivalentTo"} +xref: Orphanet:90636 {source="OMIM:618456"} +xref: UMLS:C5193107 {source="OMIM:618456"} +is_a: MONDO:0003847 {source="OMIM:618456"} ! inherited genetic disease +is_a: MONDO:0019588 {source="OMIM:618456"} ! autosomal recessive nonsyndromic deafness + +[Term] +id: MONDO:0032762 +name: deafness, autosomal recessive 115 +synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 115; DFNB115" RELATED [OMIM:618457] +xref: OMIM:618457 {source="MONDO:equivalentTo"} +xref: UMLS:C5193108 {source="OMIM:618457"} +is_a: MONDO:0003847 {source="OMIM:618457"} ! inherited genetic disease +is_a: MONDO:0019588 {source="OMIM:618457"} ! autosomal recessive nonsyndromic deafness + +[Term] +id: MONDO:0032763 +name: immunodeficiency 62 +synonym: "IMMUNODEFICIENCY 62; IMD62" RELATED [OMIM:618459] +xref: OMIM:618459 {source="MONDO:equivalentTo"} +xref: UMLS:C5193109 {source="OMIM:618459"} +is_a: MONDO:0003847 {source="OMIM:618459"} ! inherited genetic disease +is_a: MONDO:0021094 {source="OMIM:618459"} ! immunodeficiency disease + +[Term] +id: MONDO:0032764 +name: Khan-Khan-Katsanis syndrome +synonym: "3K Syndrome" RELATED [OMIM:618460] +synonym: "KHAN-KHAN-KATSANIS SYNDROME; 3KS" RELATED [OMIM:618460] +xref: OMIM:618460 {source="MONDO:equivalentTo"} +xref: UMLS:C5193110 {source="OMIM:618460"} +is_a: MONDO:0003847 {source="OMIM:618460"} ! inherited genetic disease + +[Term] +id: MONDO:0032765 +name: bleeding disorder, platelet-type, 22 +synonym: "BLEEDING DISORDER, PLATELET-TYPE, 22; BDPLT22" RELATED [OMIM:618462] +xref: OMIM:618462 {source="MONDO:equivalentTo"} +xref: UMLS:C5193111 {source="OMIM:618462"} +is_a: MONDO:0000009 {source="OMIM:618462"} ! inherited bleeding disorder, platelet-type +is_a: MONDO:0003847 {source="OMIM:618462"} ! inherited genetic disease + +[Term] +id: MONDO:0032766 +name: hypoalphalipoproteinemia, primary, 2 +synonym: "Apolipoprotein A-I Deficiency" RELATED [OMIM:618463] +synonym: "Combined Apolipoprotein A-I and C-Iii Deficiency" RELATED [OMIM:618463] +synonym: "High Density Lipoprotein Deficiency" RELATED [OMIM:618463] +synonym: "HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2" RELATED [OMIM:618463] +xref: OMIM:618463 {source="MONDO:equivalentTo"} +xref: Orphanet:425 {source="OMIM:618463"} +is_a: MONDO:0003847 {source="OMIM:618463"} ! inherited genetic disease + +[Term] +id: MONDO:0032767 +name: paragangliomas 6 +synonym: "PARAGANGLIOMAS 6; PGL6" RELATED [OMIM:618464] +xref: OMIM:618464 {source="MONDO:equivalentTo"} +xref: Orphanet:29072 {source="OMIM:618464"} +xref: UMLS:C5193112 {source="OMIM:618464"} +is_a: MONDO:0000448 {source="OMIM:618464"} ! paraganglioma +is_a: MONDO:0003847 {source="OMIM:618464"} ! inherited genetic disease + +[Term] +id: MONDO:0032768 +name: epileptic encephalopathy, early infantile, 76 +synonym: "Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination" RELATED [OMIM:618468] +synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76; EIEE76" RELATED [OMIM:618468] +xref: OMIM:618468 {source="MONDO:equivalentTo"} +xref: Orphanet:442835 {source="OMIM:618468"} +xref: UMLS:C5193113 {source="OMIM:618468"} +is_a: MONDO:0003847 {source="OMIM:618468"} ! inherited genetic disease +is_a: MONDO:0016021 {source="OMIM:618468"} ! early infantile epileptic encephalopathy + +[Term] +id: MONDO:0032770 +name: intellectual developmental disorder with severe speech and ambulation defects +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS; IDDSSAD" RELATED [OMIM:618470] +xref: OMIM:618470 {source="MONDO:equivalentTo"} +xref: Orphanet:528084 {source="OMIM:618470"} +xref: UMLS:C5193115 {source="OMIM:618470"} +is_a: MONDO:0003847 {source="OMIM:618470"} ! inherited genetic disease + +[Term] +id: MONDO:0032771 +name: paragangliomas 7 +synonym: "PARAGANGLIOMAS 7; PGL7" RELATED [OMIM:618475] +xref: OMIM:618475 {source="MONDO:equivalentTo"} +xref: Orphanet:29072 {source="OMIM:618475"} +xref: UMLS:C5193116 {source="OMIM:618475"} +is_a: MONDO:0000448 {source="OMIM:618475"} ! paraganglioma +is_a: MONDO:0003847 {source="OMIM:618475"} ! inherited genetic disease + +[Term] +id: MONDO:0032772 +name: brain abnormalities, neurodegeneration, and dysosteosclerosis +synonym: "BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS; BANDDOS" RELATED [OMIM:618476] +xref: OMIM:618476 {source="MONDO:equivalentTo"} +xref: UMLS:C5193117 {source="OMIM:618476"} +is_a: MONDO:0003847 {source="OMIM:618476"} ! inherited genetic disease + +[Term] +id: MONDO:0032773 +name: uridine-cytidineuria +synonym: "URIDINE-CYTIDINEURIA; URCTU" RELATED [OMIM:618477] +xref: OMIM:618477 {source="MONDO:equivalentTo"} +xref: UMLS:C4760647 {source="OMIM:618477"} +is_a: MONDO:0003847 {source="OMIM:618477"} ! inherited genetic disease +is_a: MONDO:0019052 ! inborn errors of metabolism + +[Term] +id: MONDO:0032774 +name: cerebellar, ocular, craniofacial, and genital syndrome +synonym: "CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME; COFG" RELATED [OMIM:618479] +xref: OMIM:618479 {source="MONDO:equivalentTo"} +xref: UMLS:C5193118 {source="OMIM:618479"} +is_a: MONDO:0003847 {source="OMIM:618479"} ! inherited genetic disease + +[Term] +id: MONDO:0032775 +name: neurodevelopmental disorder with seizures and speech and walking impairment +synonym: "NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT; NEDSSWI" RELATED [OMIM:618480] +xref: OMIM:618480 {source="MONDO:equivalentTo"} +xref: UMLS:C5193119 {source="OMIM:618480"} +is_a: MONDO:0003847 {source="OMIM:618480"} ! inherited genetic disease + +[Term] +id: MONDO:0032776 +name: deafness, autosomal recessive 99 +synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 99; DFNB99" RELATED [OMIM:618481] +xref: OMIM:618481 {source="MONDO:equivalentTo"} +xref: Orphanet:90636 {source="OMIM:618481"} +xref: UMLS:C4760579 {source="OMIM:618481"} +is_a: MONDO:0003847 {source="OMIM:618481"} ! inherited genetic disease +is_a: MONDO:0019588 {source="OMIM:618481"} ! autosomal recessive nonsyndromic deafness + +[Term] +id: MONDO:0032777 +name: generalized epilepsy with febrile seizures plus, type 10 +synonym: "Gefs+, Type 10" RELATED [OMIM:618482] +synonym: "GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10; GEFSP10" RELATED [OMIM:618482] +xref: OMIM:618482 {source="MONDO:equivalentTo"} +xref: Orphanet:36387 {source="OMIM:618482"} +xref: UMLS:C5193120 {source="OMIM:618482"} +is_a: MONDO:0003847 {source="OMIM:618482"} ! inherited genetic disease +is_a: MONDO:0018214 {source="OMIM:618482"} ! generalized epilepsy with febrile seizures plus + +[Term] +id: MONDO:0032778 +name: arthrogryposis multiplex congenita, myogenic type +synonym: "ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE; AMCM" RELATED [OMIM:618484] +xref: OMIM:618484 {source="MONDO:equivalentTo"} +xref: Orphanet:319332 {source="OMIM:618484"} +xref: UMLS:C5193121 {source="OMIM:618484"} +is_a: MONDO:0003847 {source="OMIM:618484"} ! inherited genetic disease + +[Term] +id: MONDO:0032779 +name: neurodevelopmental disorder with microcephaly and structural brain anomalies +synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES; NEDMIBA" RELATED [OMIM:618492] +xref: OMIM:618492 {source="MONDO:equivalentTo"} +xref: UMLS:C5193123 {source="OMIM:618492"} +is_a: MONDO:0003847 {source="OMIM:618492"} ! inherited genetic disease + +[Term] +id: MONDO:0032780 +name: hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities +synonym: "HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES; HIDEA" RELATED [OMIM:618493] +xref: OMIM:618493 {source="MONDO:equivalentTo"} +xref: UMLS:C5193124 {source="OMIM:618493"} +is_a: MONDO:0003847 {source="OMIM:618493"} ! inherited genetic disease + +[Term] +id: MONDO:0032781 +name: congenital hypotonia, epilepsy, developmental delay, and digital anomalies +synonym: "CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES; CHEDDA" RELATED [OMIM:618494] +xref: OMIM:618494 {source="MONDO:equivalentTo"} +xref: UMLS:C5193125 {source="OMIM:618494"} +is_a: MONDO:0003847 {source="OMIM:618494"} ! inherited genetic disease + +[Term] +id: MONDO:0032782 +name: immunodeficiency 63 with lymphoproliferation and autoimmunity +synonym: "Cd122 Deficiency" RELATED [OMIM:618495] +synonym: "Il2Rb Deficiency" RELATED [OMIM:618495] +synonym: "IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD63" RELATED [OMIM:618495] +synonym: "Interleukin 2 Receptor, Beta, Deficiency of" RELATED [OMIM:618495] +xref: OMIM:618495 {source="MONDO:equivalentTo"} +xref: UMLS:C5193126 {source="OMIM:618495"} +is_a: MONDO:0003847 {source="OMIM:618495"} ! inherited genetic disease +is_a: MONDO:0021094 {source="OMIM:618495"} ! immunodeficiency disease + +[Term] +id: MONDO:0032783 +name: aortic valve disease 3 +synonym: "AORTIC VALVE DISEASE 3; AOVD3" RELATED [OMIM:618496] +xref: OMIM:618496 {source="MONDO:equivalentTo"} +xref: UMLS:C5193127 {source="OMIM:618496"} +is_a: MONDO:0003847 {source="OMIM:618496"} ! inherited genetic disease +is_a: MONDO:0007194 {source="OMIM:618496"} ! familial bicuspid aortic valve + +[Term] +id: MONDO:0032784 +name: neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements +synonym: "NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS; NEDNEH" RELATED [OMIM:618497] +xref: OMIM:618497 {source="MONDO:equivalentTo"} +xref: UMLS:C5193128 {source="OMIM:618497"} +is_a: MONDO:0003847 {source="OMIM:618497"} ! inherited genetic disease + +[Term] +id: MONDO:0032785 +name: polydactyly, postaxial, type a10 +synonym: "POLYDACTYLY, POSTAXIAL, TYPE A10; PAPA10" RELATED [OMIM:618498] +xref: OMIM:618498 {source="MONDO:equivalentTo"} +xref: Orphanet:93334 {source="OMIM:618498"} +xref: UMLS:C5193129 {source="OMIM:618498"} +is_a: MONDO:0003847 {source="OMIM:618498"} ! inherited genetic disease +is_a: MONDO:0020927 {source="OMIM:618498"} ! postaxial polydactyly + +[Term] +id: MONDO:0032786 +name: Noonan syndrome 11 +synonym: "NOONAN SYNDROME 11; NS11" RELATED [OMIM:618499] +xref: OMIM:618499 {source="MONDO:equivalentTo"} +xref: Orphanet:648 {source="OMIM:618499"} +xref: UMLS:C5193130 {source="OMIM:618499"} +is_a: MONDO:0003847 {source="OMIM:618499"} ! inherited genetic disease +is_a: MONDO:0018997 {source="OMIM:618499"} ! Noonan syndrome + +[Term] +id: MONDO:0032787 +name: holoprosencephaly 12 with or without pancreatic agenesis +synonym: "HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS; HPE12" RELATED [OMIM:618500] +xref: OMIM:618500 {source="MONDO:equivalentTo"} +xref: UMLS:C5193131 {source="OMIM:618500"} +is_a: MONDO:0003847 {source="OMIM:618500"} ! inherited genetic disease +is_a: MONDO:0016296 {source="OMIM:618500"} ! holoprosencephaly + +[Term] +id: MONDO:0032788 +name: cerebellar atrophy with seizures and variable developmental delay +synonym: "CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY; CASVDD" RELATED [OMIM:618501] +xref: OMIM:618501 {source="MONDO:equivalentTo"} +xref: UMLS:C5193132 {source="OMIM:618501"} +is_a: MONDO:0003847 {source="OMIM:618501"} ! inherited genetic disease + +[Term] +id: MONDO:0032789 +name: intellectual developmental disorder, autosomal recessive 71 +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71; MRT71" RELATED [OMIM:618504] +synonym: "Mental Retardation, Autosomal Recessive 71" RELATED [OMIM:618504] +xref: OMIM:618504 {source="MONDO:equivalentTo"} +xref: UMLS:C5193133 {source="OMIM:618504"} +is_a: MONDO:0003847 {source="OMIM:618504"} ! inherited genetic disease +is_a: MONDO:0019502 {source="OMIM:618504"} ! autosomal recessive non-syndromic intellectual disability + +[Term] +id: MONDO:0032790 +name: neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities +synonym: "NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES; NEDCFSA" RELATED [OMIM:618505] +xref: OMIM:618505 {source="MONDO:equivalentTo"} +xref: UMLS:C5193134 {source="OMIM:618505"} +is_a: MONDO:0003847 {source="OMIM:618505"} ! inherited genetic disease + +[Term] +id: MONDO:0032791 +name: coffin-siris syndrome 10 +synonym: "COFFIN-SIRIS SYNDROME 10; CSS10" RELATED [OMIM:618506] +xref: OMIM:618506 {source="MONDO:equivalentTo"} +xref: UMLS:C4760583 {source="OMIM:618506"} +is_a: MONDO:0003847 {source="OMIM:618506"} ! inherited genetic disease +is_a: MONDO:0015452 {source="OMIM:618506"} ! Coffin-Siris syndrome + +[Term] +id: MONDO:0032792 +name: neuropathy, hereditary motor and sensory, type VIc, with optic atrophy +synonym: "Charcot-Marie-Tooth Disease, Type 6C" RELATED [OMIM:618511] +synonym: "Hmsn 6C" RELATED [OMIM:618511] +synonym: "NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY; HMSN6C" RELATED [OMIM:618511] +xref: OMIM:618511 {source="MONDO:equivalentTo"} +xref: UMLS:C5193137 {source="OMIM:618511"} +is_a: MONDO:0003847 {source="OMIM:618511"} ! inherited genetic disease + +[Term] +id: MONDO:0032793 +name: o'donnell-luria-rodan syndrome +synonym: "O'DONNELL-LURIA-RODAN SYNDROME; ODLURO" RELATED [OMIM:618512] +xref: OMIM:618512 {source="MONDO:equivalentTo"} +xref: UMLS:C5193138 {source="OMIM:618512"} +is_a: MONDO:0003847 {source="OMIM:618512"} ! inherited genetic disease + +[Term] +id: MONDO:0032794 +name: leber congenital amaurosis 19 +synonym: "LEBER CONGENITAL AMAUROSIS 19; LCA19" RELATED [OMIM:618513] +xref: OMIM:618513 {source="MONDO:equivalentTo"} +xref: Orphanet:65 {source="OMIM:618513"} +xref: UMLS:C5193139 {source="OMIM:618513"} +is_a: MONDO:0003847 {source="OMIM:618513"} ! inherited genetic disease +is_a: MONDO:0018998 {source="OMIM:618513"} ! Leber congenital amaurosis + +[Term] +id: MONDO:0032795 +name: intellectual developmental disorder 59 +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 59; MRD59" RELATED [OMIM:618522] +synonym: "Mental Retardation, Autosomal Dominant 59" RELATED [OMIM:618522] +xref: OMIM:618522 {source="MONDO:equivalentTo"} +xref: UMLS:C5193140 {source="OMIM:618522"} +is_a: MONDO:0003847 {source="OMIM:618522"} ! inherited genetic disease +is_a: MONDO:0015802 {source="OMIM:618522"} ! autosomal dominant non-syndromic intellectual disability + +[Term] +id: MONDO:0032796 +name: hyper-ige recurrent infection syndrome 4, autosomal recessive +synonym: "HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE; HIES4" RELATED [OMIM:618523] +xref: OMIM:618523 {source="MONDO:equivalentTo"} +xref: UMLS:C5193141 {source="OMIM:618523"} +is_a: MONDO:0003847 {source="OMIM:618523"} ! inherited genetic disease +is_a: MONDO:0018037 {source="OMIM:618523"} ! hyper-IgE syndrome + +[Term] +id: MONDO:0032797 +name: myopathy, congenital, with tremor +synonym: "Myogenic Tremor" RELATED [OMIM:618524] +synonym: "MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM" RELATED [OMIM:618524] +xref: OMIM:618524 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618524"} ! inherited genetic disease + +[Term] +id: MONDO:0032798 +name: ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features +synonym: "ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES; IKSHD" RELATED [OMIM:618527] +xref: OMIM:618527 {source="MONDO:equivalentTo"} +xref: UMLS:C5193147 {source="OMIM:618527"} +is_a: MONDO:0003847 {source="OMIM:618527"} ! inherited genetic disease + +[Term] +id: MONDO:0032799 +name: mitochondrial dna depletion syndrome 16 (hepatic type) +synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE); MTDPS16" RELATED [OMIM:618528] +xref: OMIM:618528 {source="MONDO:equivalentTo"} +xref: UMLS:C5193142 {source="OMIM:618528"} +is_a: MONDO:0003847 {source="OMIM:618528"} ! inherited genetic disease +is_a: MONDO:0018158 {source="OMIM:618528"} ! mitochondrial DNA depletion syndrome + +[Term] +id: MONDO:0032800 +name: robinow syndrome, autosomal recessive 2 +synonym: "ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2; RRS2" RELATED [OMIM:618529] +xref: OMIM:618529 {source="MONDO:equivalentTo"} +xref: Orphanet:1507 {source="OMIM:618529"} +xref: UMLS:C5193143 {source="OMIM:618529"} +is_a: MONDO:0003847 {source="OMIM:618529"} ! inherited genetic disease +is_a: MONDO:0019978 {source="OMIM:618529"} ! Robinow syndrome + +[Term] +id: MONDO:0032801 +name: erythrokeratodermia variabilis et progressiva 6 +synonym: "ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6" RELATED [OMIM:618531] +xref: OMIM:618531 {source="MONDO:equivalentTo"} +xref: Orphanet:316 {source="OMIM:618531"} +xref: UMLS:C5193144 {source="OMIM:618531"} +is_a: MONDO:0003847 {source="OMIM:618531"} ! inherited genetic disease +is_a: MONDO:0017851 {source="OMIM:618531"} ! erythrokeratodermia variabilis + +[Term] +id: MONDO:0032802 +name: deafness, autosomal dominant 37 +synonym: "DEAFNESS, AUTOSOMAL DOMINANT 37; DFNA37" RELATED [OMIM:618533] +xref: OMIM:618533 {source="MONDO:equivalentTo"} +xref: UMLS:C4760307 {source="OMIM:618533"} +is_a: MONDO:0003847 {source="OMIM:618533"} ! inherited genetic disease +is_a: MONDO:0019587 {source="OMIM:618533"} ! autosomal dominant nonsyndromic deafness + +[Term] +id: MONDO:0032803 +name: immunodeficiency 64 +synonym: "IMMUNODEFICIENCY 64; IMD64" RELATED [OMIM:618534] +xref: OMIM:618534 {source="MONDO:equivalentTo"} +xref: Orphanet:3261 {source="OMIM:618534"} +is_a: MONDO:0003847 {source="OMIM:618534"} ! inherited genetic disease +is_a: MONDO:0021094 {source="OMIM:618534"} ! immunodeficiency disease + +[Term] +id: MONDO:0032804 +name: ectodermal dysplasia 15, hypohidrotic/hair type +synonym: "ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE; ECTD15" RELATED [OMIM:618535] +xref: OMIM:618535 {source="MONDO:equivalentTo"} +xref: Orphanet:248 {source="OMIM:618535"} +xref: UMLS:C5193145 {source="OMIM:618535"} +is_a: MONDO:0003847 {source="OMIM:618535"} ! inherited genetic disease +is_a: MONDO:0019287 {source="OMIM:618535"} ! ectodermal dysplasia syndrome + +[Term] +id: MONDO:0032805 +name: hypopigmentation, organomegaly, and delayed myelination and development +synonym: "HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT; HOD" RELATED [OMIM:618541] +xref: OMIM:618541 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618541"} ! inherited genetic disease + +[Term] +id: MONDO:0032806 +name: trichothiodystrophy 7, nonphotosensitive +synonym: "TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE; TTD7" RELATED [OMIM:618546] +xref: OMIM:618546 {source="MONDO:equivalentTo"} +xref: Orphanet:33364 {source="OMIM:618546"} +is_a: MONDO:0003847 {source="OMIM:618546"} ! inherited genetic disease +is_a: MONDO:0018053 {source="OMIM:618546"} ! trichothiodystrophy + +[Term] +id: MONDO:0032807 +name: neurodevelopmental disorder with visual defects and brain anomalies +synonym: "NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA" RELATED [OMIM:618547] +xref: OMIM:618547 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618547"} ! inherited genetic disease + +[Term] +id: MONDO:0032808 +name: epileptic encephalopathy, early infantile, 77 +synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77; EIEE77" RELATED [OMIM:618548] +synonym: "Glycosylphosphatidylinositol Biosynthesis Defect 19" RELATED [OMIM:618548] +xref: OMIM:618548 {source="MONDO:equivalentTo"} +xref: Orphanet:1934 {source="OMIM:618548"} +is_a: MONDO:0003847 {source="OMIM:618548"} ! inherited genetic disease +is_a: MONDO:0016021 {source="OMIM:618548"} ! early infantile epileptic encephalopathy + +[Term] +id: MONDO:0032809 +name: hepatitis, fulminant viral, susceptibility to +synonym: "HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH" RELATED [OMIM:618549] +xref: OMIM:618549 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618549"} ! inherited genetic disease + +[Term] +id: MONDO:0032810 +name: oocyte maturation defect 7 +synonym: "OOCYTE MATURATION DEFECT 7; OOMD7" RELATED [OMIM:618550] +xref: OMIM:618550 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618550"} ! inherited genetic disease +is_a: MONDO:0014769 {source="OMIM:618550"} ! inherited oocyte maturation defect + +[Term] +id: MONDO:0032811 +name: night blindness, congenital stationary, type1i +synonym: "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I" RELATED [OMIM:618555] +xref: OMIM:618555 {source="MONDO:equivalentTo"} +xref: Orphanet:1872 {source="OMIM:618555"} +is_a: MONDO:0003847 {source="OMIM:618555"} ! inherited genetic disease +is_a: MONDO:0016293 {source="OMIM:618555"} ! congenital stationary night blindness + +[Term] +id: MONDO:0032812 +name: epileptic encephalopathy, early infantile, 78 +synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78; EIEE78" RELATED [OMIM:618557] +xref: OMIM:618557 {source="MONDO:equivalentTo"} +xref: Orphanet:442835 {source="OMIM:618557"} +is_a: MONDO:0003847 {source="OMIM:618557"} ! inherited genetic disease +is_a: MONDO:0016021 {source="OMIM:618557"} ! early infantile epileptic encephalopathy + +[Term] +id: MONDO:0032813 +name: epileptic encephalopathy, early infantile, 79 +synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79; EIEE79" RELATED [OMIM:618559] +xref: OMIM:618559 {source="MONDO:equivalentTo"} +xref: Orphanet:442835 {source="OMIM:618559"} +is_a: MONDO:0003847 {source="OMIM:618559"} ! inherited genetic disease +is_a: MONDO:0016021 {source="OMIM:618559"} ! early infantile epileptic encephalopathy + +[Term] +id: MONDO:0032814 +name: microangiopathy and leukoencephalopathy, pontine, autosomal dominant +synonym: "Dementia, Hereditary Multi-Infarct, Swedish Type" RELATED [OMIM:618564] +synonym: "MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL" RELATED [OMIM:618564] +xref: OMIM:618564 {source="MONDO:equivalentTo"} +xref: Orphanet:477749 {source="OMIM:618564"} +is_a: MONDO:0003847 {source="OMIM:618564"} ! inherited genetic disease + +[Term] +id: MONDO:0032815 +name: mitochondrial DNA depletion syndrome 17 +synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17" RELATED [OMIM:618567] +xref: OMIM:618567 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618567"} ! inherited genetic disease +is_a: MONDO:0018158 {source="OMIM:618567"} ! mitochondrial DNA depletion syndrome + +[Term] +id: MONDO:0032816 +name: neurodevelopmental disorder with ataxia, hypotonia, and microcephaly +synonym: "NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM" RELATED [OMIM:618569] +xref: OMIM:618569 {source="MONDO:equivalentTo"} +xref: Orphanet:528084 {source="OMIM:618569"} +is_a: MONDO:0003847 {source="OMIM:618569"} ! inherited genetic disease + +[Term] +id: MONDO:0032817 +name: neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +synonym: "NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF" RELATED [OMIM:618571] +xref: OMIM:618571 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618571"} ! inherited genetic disease + +[Term] +id: MONDO:0032818 +name: neurodevelopmental disorder with cerebellar hypoplasia and spasticity +synonym: "NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS" RELATED [OMIM:618572] +xref: OMIM:618572 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618572"} ! inherited genetic disease + +[Term] +id: MONDO:0032819 +name: hypothyroidism, congenital, nongoitrous, 7 +synonym: "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7" RELATED [OMIM:618573] +synonym: "Thyrotropin-Releasing Hormone Resistance, Generalized" RELATED [OMIM:618573] +xref: OMIM:618573 {source="MONDO:equivalentTo"} +xref: Orphanet:99832 {source="OMIM:618573"} +is_a: MONDO:0000045 {source="OMIM:618573"} ! hypothyroidism, congenital, nongoitrous +is_a: MONDO:0003847 {source="OMIM:618573"} ! inherited genetic disease + +[Term] +id: MONDO:0032820 +name: neurodevelopmental disorder with structural brain anomalies and dysmorphic facies +synonym: "NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF" RELATED [OMIM:618577] +xref: OMIM:618577 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618577"} ! inherited genetic disease + +[Term] +id: MONDO:0032821 +name: myopathy, congenital, progressive, with scoliosis +synonym: "MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO" RELATED [OMIM:618578] +xref: OMIM:618578 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618578"} ! inherited genetic disease + +[Term] +id: MONDO:0032822 +name: epileptic encephalopathy, early infantile, 80 +synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80; EIEE80" RELATED [OMIM:618580] +synonym: "Glycosylphosphatidylinositol Biosynthesis Defect 20" RELATED [OMIM:618580] +xref: OMIM:618580 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618580"} ! inherited genetic disease +is_a: MONDO:0016021 {source="OMIM:618580"} ! early infantile epileptic encephalopathy + +[Term] +id: MONDO:0032823 +name: intellectual developmental disorder 60 with seizures +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES; MRD60" RELATED [OMIM:618587] +synonym: "Mental Retardation, Autosomal Dominant 60, With Seizures" RELATED [OMIM:618587] +xref: OMIM:618587 {source="MONDO:equivalentTo"} +xref: Orphanet:1942 {source="OMIM:618587"} +is_a: MONDO:0003847 {source="OMIM:618587"} ! inherited genetic disease +is_a: MONDO:0015802 {source="OMIM:618587"} ! autosomal dominant non-syndromic intellectual disability + +[Term] +id: MONDO:0032824 +name: glycosylphosphatidylinositol biosynthesis defect 21 +synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21; GPIBD21" RELATED [OMIM:618590] +synonym: "Neurodevelopmental Disorder With Brain Anomalies, Seizures, and Scoliosis" RELATED [OMIM:618590] +xref: OMIM:618590 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618590"} ! inherited genetic disease + +[Term] +id: MONDO:0032826 +name: nephrotic syndrome, type 21 +synonym: "NEPHROTIC SYNDROME, TYPE 21; NPHS21" RELATED [OMIM:618594] +xref: OMIM:618594 {source="MONDO:equivalentTo"} +is_a: MONDO:0002350 {source="OMIM:618594"} ! familial nephrotic syndrome +is_a: MONDO:0003847 {source="OMIM:618594"} ! inherited genetic disease + +[Term] +id: MONDO:0032827 +name: epilepsy, idiopathic generalized, susceptibility to, 16 +synonym: "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16" RELATED [OMIM:618596] +xref: OMIM:618596 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618596"} ! inherited genetic disease +is_a: MONDO:0005579 {source="OMIM:618596"} ! epilepsy, idiopathic generalized + +[Term] +id: MONDO:0032828 +name: spastic tetraplegia and axial hypotonia, progressive +synonym: "Sod1 Deficiency, Autosomal Recessive" RELATED [OMIM:618598] +synonym: "SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP" RELATED [OMIM:618598] +xref: OMIM:618598 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618598"} ! inherited genetic disease + +[Term] +id: MONDO:0032829 +name: neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities +synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB" RELATED [OMIM:618603] +xref: OMIM:618603 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618603"} ! inherited genetic disease + +[Term] +id: MONDO:0032830 +name: snijders blok-fisher syndrome +synonym: "SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS" RELATED [OMIM:618604] +xref: OMIM:618604 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618604"} ! inherited genetic disease + +[Term] +id: MONDO:0032831 +name: pontocerebellar hypoplasia, type 13 +synonym: "PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13" RELATED [OMIM:618606] +xref: OMIM:618606 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618606"} ! inherited genetic disease +is_a: MONDO:0020135 {source="OMIM:618606"} ! pontocerebellar hypoplasia + +[Term] +id: MONDO:0032832 +name: intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies +synonym: "Chromosome 12Q15 Deletion Syndrome" RELATED [OMIM:618608] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS" RELATED [OMIM:618608] +xref: OMIM:618608 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618608"} ! inherited genetic disease + +[Term] +id: MONDO:0032833 +name: lower urinary tract obstruction, congenital +synonym: "LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO" RELATED [OMIM:618612] +xref: OMIM:618612 {source="MONDO:equivalentTo"} +xref: Orphanet:93110 {source="OMIM:618612"} +is_a: MONDO:0003847 {source="OMIM:618612"} ! inherited genetic disease + +[Term] +id: MONDO:0032834 +name: retinitis pigmentosa 86 +synonym: "RETINITIS PIGMENTOSA 86; RP86" RELATED [OMIM:618613] +xref: OMIM:618613 {source="MONDO:equivalentTo"} +xref: Orphanet:791 {source="OMIM:618613"} +is_a: MONDO:0003847 {source="OMIM:618613"} ! inherited genetic disease +is_a: MONDO:0019200 {source="OMIM:618613"} ! retinitis pigmentosa + +[Term] +id: MONDO:0032835 +name: spondyloepiphyseal dysplasia, nishimura type +synonym: "SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN" RELATED [OMIM:618618] +xref: OMIM:618618 {source="MONDO:equivalentTo"} +xref: Orphanet:163649 {source="OMIM:618618"} +is_a: MONDO:0003847 {source="OMIM:618618"} ! inherited genetic disease + +[Term] +id: MONDO:0032836 +name: weiss-kruszka syndrome +synonym: "WEISS-KRUSZKA SYNDROME; WSKA" RELATED [OMIM:618619] +xref: OMIM:618619 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618619"} ! inherited genetic disease + +[Term] +id: MONDO:0032837 +name: abdominal obesity-metabolic syndrome 4 +synonym: "ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4" RELATED [OMIM:618620] +xref: OMIM:618620 {source="MONDO:equivalentTo"} +is_a: MONDO:0000816 {source="OMIM:618620"} ! abdominal obesity-metabolic syndrome +is_a: MONDO:0003847 {source="OMIM:618620"} ! inherited genetic disease + +[Term] +id: MONDO:0032838 +name: neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies +synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA" RELATED [OMIM:618622] +xref: OMIM:618622 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618622"} ! inherited genetic disease + +[Term] +id: MONDO:0032839 +name: noonan syndrome 12 +synonym: "NOONAN SYNDROME 12; NS12" RELATED [OMIM:618624] +xref: OMIM:618624 {source="MONDO:equivalentTo"} +xref: Orphanet:648 {source="OMIM:618624"} +is_a: MONDO:0003847 {source="OMIM:618624"} ! inherited genetic disease +is_a: MONDO:0018997 {source="OMIM:618624"} ! Noonan syndrome + +[Term] +id: MONDO:0032840 +name: rothmund-thomson syndrome, type 1 +synonym: "Poikiloderma Atrophicans and Cataract" RELATED [OMIM:618625] +synonym: "ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1" RELATED [OMIM:618625] +xref: OMIM:618625 {source="MONDO:equivalentTo"} +xref: Orphanet:221008 {source="OMIM:618625"} +is_a: MONDO:0003847 {source="OMIM:618625"} ! inherited genetic disease +is_a: MONDO:0010002 {source="OMIM:618625"} ! Rothmund-Thomson syndrome + +[Term] +id: MONDO:0032841 +name: usher syndrome, type 1m +synonym: "USHER SYNDROME, TYPE 1M; USH1M" RELATED [OMIM:618632] +xref: OMIM:618632 {source="MONDO:equivalentTo"} +xref: Orphanet:231169 {source="OMIM:618632"} +is_a: MONDO:0003847 {source="OMIM:618632"} ! inherited genetic disease + +[Term] +id: MONDO:0032842 +name: siddiqi syndrome +synonym: "Deafness, Dystonia, Developmental Delay, and Poor Growth" RELATED [OMIM:618635] +synonym: "SIDDIQI SYNDROME; SIDDIS" RELATED [OMIM:618635] +xref: OMIM:618635 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618635"} ! inherited genetic disease + +[Term] +id: MONDO:0032843 +name: oculopharyngeal myopathy with leukoencephalopathy 1 +synonym: "OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1" RELATED [OMIM:618637] +xref: OMIM:618637 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618637"} ! inherited genetic disease + +[Term] +id: MONDO:0032844 +name: infantile liver failure syndrome 3 +synonym: "INFANTILE LIVER FAILURE SYNDROME 3; ILFS3" RELATED [OMIM:618641] +xref: OMIM:618641 {source="MONDO:equivalentTo"} +xref: Orphanet:464724 {source="OMIM:618641"} +is_a: MONDO:0000023 {source="OMIM:618641"} ! infantile liver failure +is_a: MONDO:0003847 {source="OMIM:618641"} ! inherited genetic disease + +[Term] +id: MONDO:0032845 +name: spermatogenic failure 39 +synonym: "SPERMATOGENIC FAILURE 39; SPGF39" RELATED [OMIM:618643] +xref: OMIM:618643 {source="MONDO:equivalentTo"} +xref: Orphanet:276234 {source="OMIM:618643"} +is_a: MONDO:0003847 {source="OMIM:618643"} ! inherited genetic disease +is_a: MONDO:0004983 {source="OMIM:618643"} ! azoospermia + +[Term] +id: MONDO:0032846 +name: osteogenesis imperfecta, type 20 +synonym: "OSTEOGENESIS IMPERFECTA, TYPE XX; OI20" RELATED [OMIM:618644] +xref: OMIM:618644 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618644"} ! inherited genetic disease +is_a: MONDO:0019019 {source="OMIM:618644"} ! osteogenesis imperfecta + +[Term] +id: MONDO:0032848 +name: immunodeficiency 65, susceptibility to viral infections +synonym: "IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65" RELATED [OMIM:618648] +xref: OMIM:618648 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618648"} ! inherited genetic disease +is_a: MONDO:0021094 {source="OMIM:618648"} ! immunodeficiency disease + +[Term] +id: MONDO:0032849 +name: neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies +synonym: "NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES; NEDSOSB" RELATED [OMIM:618651] +xref: OMIM:618651 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618651"} ! inherited genetic disease + +[Term] +id: MONDO:0032850 +name: neurooculocardiogenitourinary syndrome +synonym: "NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS" RELATED [OMIM:618652] +xref: OMIM:618652 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618652"} ! inherited genetic disease + +[Term] +id: MONDO:0032851 +name: intellectual developmental disorder with impaired language and dysmorphic facies +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF" RELATED [OMIM:618653] +xref: OMIM:618653 {source="MONDO:equivalentTo"} +xref: Orphanet:528084 {source="OMIM:618653"} +is_a: MONDO:0003847 {source="OMIM:618653"} ! inherited genetic disease + +[Term] +id: MONDO:0032852 +name: myopathy, congenital, with structured cores and z-line abnormalities +synonym: "Multiple Structured Core Disease" RELATED [OMIM:618654] +synonym: "MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ" RELATED [OMIM:618654] +xref: OMIM:618654 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618654"} ! inherited genetic disease + +[Term] +id: MONDO:0032853 +name: myopathy, distal, 6, adult-onset, autosomal dominant +synonym: "MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6" RELATED [OMIM:618655] +xref: OMIM:618655 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618655"} ! inherited genetic disease + +[Term] +id: MONDO:0032854 +name: zimmermann-laband syndrome 3 +synonym: "ZIMMERMANN-LABAND SYNDROME 3; ZLS3" RELATED [OMIM:618658] +xref: OMIM:618658 {source="MONDO:equivalentTo"} +xref: Orphanet:3473 {source="OMIM:618658"} +is_a: MONDO:0000200 {source="OMIM:618658"} ! Zimmermann-Laband syndrome +is_a: MONDO:0003847 {source="OMIM:618658"} ! inherited genetic disease + +[Term] +id: MONDO:0032855 +name: neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies +synonym: "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA" RELATED [OMIM:618659] +xref: OMIM:618659 {source="MONDO:equivalentTo"} +xref: Orphanet:528084 {source="OMIM:618659"} +is_a: MONDO:0003847 {source="OMIM:618659"} ! inherited genetic disease + +[Term] +id: MONDO:0032856 +name: hemolytic anemia due to glutathione reductase deficiency +synonym: "HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY" RELATED [OMIM:618660] +xref: OMIM:618660 {source="MONDO:equivalentTo"} +xref: Orphanet:90030 {source="OMIM:618660"} +is_a: MONDO:0003847 {source="OMIM:618660"} ! inherited genetic disease + +[Term] +id: MONDO:0032857 +name: diarrhea 11, malabsorptive, congenital +synonym: "DIARRHEA 11, MALABSORPTIVE, CONGENITAL; DIAR11" RELATED [OMIM:618662] +synonym: "Intractable Diarrhea of Infancy Syndrome" RELATED [OMIM:618662] +xref: OMIM:618662 {source="MONDO:equivalentTo"} +xref: Orphanet:1670 {source="OMIM:618662"} +is_a: MONDO:0000824 {source="OMIM:618662"} ! congenital diarrhea +is_a: MONDO:0003847 {source="OMIM:618662"} ! inherited genetic disease + +[Term] +id: MONDO:0032858 +name: epileptic encephalopathy, early infantile, 81 +synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81; EIEE81" RELATED [OMIM:618663] +xref: OMIM:618663 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618663"} ! inherited genetic disease +is_a: MONDO:0016021 {source="OMIM:618663"} ! early infantile epileptic encephalopathy + +[Term] +id: MONDO:0032859 +name: spermatogenic failure 40 +synonym: "SPERMATOGENIC FAILURE 40; SPGF40" RELATED [OMIM:618664] +xref: OMIM:618664 {source="MONDO:equivalentTo"} +xref: Orphanet:276234 {source="OMIM:618664"} +is_a: MONDO:0003847 {source="OMIM:618664"} ! inherited genetic disease +is_a: MONDO:0004983 {source="OMIM:618664"} ! azoospermia + +[Term] +id: MONDO:0032860 +name: intellectual developmental disorder, autosomal recessive 72 +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72" RELATED [OMIM:618665] +synonym: "Mental Retardation, Autosomal Recessive 72" RELATED [OMIM:618665] +xref: OMIM:618665 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618665"} ! inherited genetic disease +is_a: MONDO:0019502 {source="OMIM:618665"} ! autosomal recessive non-syndromic intellectual disability + +[Term] +id: MONDO:0032862 +name: hydrocephalus, congenital communicating, 1 +synonym: "HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1; HYDCC1" RELATED [OMIM:618667] +xref: OMIM:618667 {source="MONDO:equivalentTo"} +xref: Orphanet:90030 {source="OMIM:618667"} +is_a: MONDO:0003847 {source="OMIM:618667"} ! inherited genetic disease + +[Term] +id: MONDO:0032863 +name: spermatogenic failure 41 +synonym: "SPERMATOGENIC FAILURE 41; SPGF41" RELATED [OMIM:618670] +xref: OMIM:618670 {source="MONDO:equivalentTo"} +xref: Orphanet:276234 {source="OMIM:618670"} +is_a: MONDO:0003847 {source="OMIM:618670"} ! inherited genetic disease +is_a: MONDO:0004983 {source="OMIM:618670"} ! azoospermia + +[Term] +id: MONDO:0032864 +name: intellectual developmental disorder with speech delay, autism, and dysmorphic facies +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF" RELATED [OMIM:618672] +xref: OMIM:618672 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618672"} ! inherited genetic disease + +[Term] +id: MONDO:0032865 +name: pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 +synonym: "PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5; PFBMFT5" RELATED [OMIM:618674] +xref: OMIM:618674 {source="MONDO:equivalentTo"} +is_a: MONDO:0000148 {source="OMIM:618674"} ! pulmonary fibrosis and/or bone marrow failure, telomere-related +is_a: MONDO:0003847 {source="OMIM:618674"} ! inherited genetic disease + +[Term] +id: MONDO:0032866 +name: cortical dysplasia, complex, with other brain malformations 10 +synonym: "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10" RELATED [OMIM:618677] +xref: OMIM:618677 {source="MONDO:equivalentTo"} +is_a: MONDO:0000904 {source="OMIM:618677"} ! complex cortical dysplasia with other brain malformations +is_a: MONDO:0003847 {source="OMIM:618677"} ! inherited genetic disease + +[Term] +id: MONDO:0032867 +name: pancreatic cancer, susceptibility to, 5 +synonym: "PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5" RELATED [OMIM:618680] +xref: OMIM:618680 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618680"} ! inherited genetic disease + +[Term] +id: MONDO:0032868 +name: lessel-kubisch syndrome +synonym: "LESSEL-KUBISCH SYNDROME; LSKB" RELATED [OMIM:618681] +xref: OMIM:618681 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618681"} ! inherited genetic disease + +[Term] +id: MONDO:0032869 +name: mitochondrial complex 5 (atp synthase) deficiency, nuclear type 6 +synonym: "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6" RELATED [OMIM:618683] +xref: OMIM:618683 {source="MONDO:equivalentTo"} +xref: Orphanet:254913 {source="OMIM:618683"} +is_a: MONDO:0003847 {source="OMIM:618683"} ! inherited genetic disease +is_a: MONDO:0014471 {source="OMIM:618683"} ! mitochondrial proton-transporting ATP synthase complex deficiency + +[Term] +id: MONDO:0032870 +name: intellectual developmental disorder with short stature and behavioral abnormalities +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA" RELATED [OMIM:618687] +xref: OMIM:618687 {source="MONDO:equivalentTo"} +xref: Orphanet:88616 {source="OMIM:618687"} +is_a: MONDO:0003847 {source="OMIM:618687"} ! inherited genetic disease + +[Term] +id: MONDO:0032871 +name: leukodystrophy, hypomyelinating, 19, transient infantile +synonym: "LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19" RELATED [OMIM:618688] +xref: OMIM:618688 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618688"} ! inherited genetic disease +is_a: MONDO:0019046 {source="OMIM:618688"} ! leukodystrophy + +[Term] +id: MONDO:0032872 +name: ciliary dyskinesia, primary, 42 +synonym: "Ciliary Dyskinesia, Primary, 42, Without Situs Inversus" RELATED [OMIM:618695] +synonym: "CILIARY DYSKINESIA, PRIMARY, 42; CILD42" RELATED [OMIM:618695] +xref: OMIM:618695 {source="MONDO:equivalentTo"} +xref: Orphanet:244 {source="OMIM:618695"} +is_a: MONDO:0003847 {source="OMIM:618695"} ! inherited genetic disease +is_a: MONDO:0016575 {source="OMIM:618695"} ! primary ciliary dyskinesia + +[Term] +id: MONDO:0032873 +name: retinitis pigmentosa 87 with choroidal involvement +synonym: "RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87" RELATED [OMIM:618697] +xref: OMIM:618697 {source="MONDO:equivalentTo"} +xref: Orphanet:791 {source="OMIM:618697"} +is_a: MONDO:0003847 {source="OMIM:618697"} ! inherited genetic disease +is_a: MONDO:0019200 {source="OMIM:618697"} ! retinitis pigmentosa + +[Term] +id: MONDO:0032874 +name: ciliary dyskinesia, primary, 43 +synonym: "Ciliary Dyskinesia, Primary, 43, With or Without Situs Inversus" RELATED [OMIM:618699] +synonym: "CILIARY DYSKINESIA, PRIMARY, 43; CILD43" RELATED [OMIM:618699] +xref: OMIM:618699 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618699"} ! inherited genetic disease +is_a: MONDO:0016575 {source="OMIM:618699"} ! primary ciliary dyskinesia + +[Term] +id: MONDO:0032875 +name: short stature and microcephaly with genital anomalies +synonym: "SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA" RELATED [OMIM:618702] +xref: OMIM:618702 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618702"} ! inherited genetic disease + +[Term] +id: MONDO:0032876 +name: neurodevelopmental disorder with absent language and variable seizures +synonym: "Ito-Raymond Syndrome" RELATED [OMIM:618707] +synonym: "NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS" RELATED [OMIM:618707] +xref: OMIM:618707 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618707"} ! inherited genetic disease + +[Term] +id: MONDO:0032877 +name: neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures +synonym: "NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS" RELATED [OMIM:618709] +xref: OMIM:618709 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618709"} ! inherited genetic disease + +[Term] +id: MONDO:0032878 +name: neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia +synonym: "NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH" RELATED [OMIM:618718] +xref: OMIM:618718 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618718"} ! inherited genetic disease + +[Term] +id: MONDO:0032879 +name: megabladder, congenital +synonym: "MEGABLADDER, CONGENITAL; MGBL" RELATED [OMIM:618719] +xref: OMIM:618719 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618719"} ! inherited genetic disease + +[Term] +id: MONDO:0032880 +name: epileptic encephalopathy, early infantile, 82 +synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82; EIEE82" RELATED [OMIM:618721] +synonym: "Glutamate Oxaloacetate Transaminase, Mitochondrial, Deficiency of" RELATED [OMIM:618721] +synonym: "Got2 Deficiency" RELATED [OMIM:618721] +xref: OMIM:618721 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618721"} ! inherited genetic disease +is_a: MONDO:0016021 {source="OMIM:618721"} ! early infantile epileptic encephalopathy + +[Term] +id: MONDO:0032881 +name: premature ovarian failure 16 +synonym: "PREMATURE OVARIAN FAILURE 16; POF16" RELATED [OMIM:618723] +xref: OMIM:618723 {source="MONDO:equivalentTo"} +xref: Orphanet:243 {source="OMIM:618723"} +is_a: MONDO:0003847 {source="OMIM:618723"} ! inherited genetic disease +is_a: MONDO:0005387 {source="OMIM:618723"} ! primary ovarian failure + +[Term] +id: MONDO:0032882 +name: heyn-sproul-jackson syndrome +synonym: "HEYN-SPROUL-JACKSON SYNDROME; HESJAS" RELATED [OMIM:618724] +synonym: "Microcephaly, Short Stature, and Impaired Intellectual Development" RELATED [OMIM:618724] +xref: OMIM:618724 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618724"} ! inherited genetic disease + +[Term] +id: MONDO:0032883 +name: intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS" RELATED [OMIM:618725] +xref: OMIM:618725 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618725"} ! inherited genetic disease + +[Term] +id: MONDO:0032884 +name: ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies +synonym: "ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB" RELATED [OMIM:618727] +xref: OMIM:618727 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618727"} ! inherited genetic disease + +[Term] +id: MONDO:0032885 +name: spondyloepimetaphyseal dysplasia, isidor-toutain type +synonym: "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST" RELATED [OMIM:618728] +xref: OMIM:618728 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618728"} ! inherited genetic disease + +[Term] +id: MONDO:0032886 +name: liang-wang syndrome +synonym: "LIANG-WANG SYNDROME; LIWAS" RELATED [OMIM:618729] +xref: OMIM:618729 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618729"} ! inherited genetic disease + +[Term] +id: MONDO:0032887 +name: neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity +synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS" RELATED [OMIM:618730] +synonym: "Vandervore-Schot Syndrome" RELATED [OMIM:618730] +xref: OMIM:618730 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618730"} ! inherited genetic disease + +[Term] +id: MONDO:0032888 +name: neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies +synonym: "NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC" RELATED [OMIM:618731] +xref: OMIM:618731 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618731"} ! inherited genetic disease + +[Term] +id: MONDO:0032889 +name: poirier-bienvenu neurodevelopmental syndrome +synonym: "POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS" RELATED [OMIM:618732] +xref: OMIM:618732 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618732"} ! inherited genetic disease + +[Term] +id: MONDO:0032890 +name: neuromuscular disease and ocular or auditory anomalies with or without seizures +synonym: "NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES; NMOAS" RELATED [OMIM:618733] +xref: OMIM:618733 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618733"} ! inherited genetic disease + +[Term] +id: MONDO:0032891 +name: aneurysm, intracranial berry, 12 +synonym: "ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12" RELATED [OMIM:618734] +xref: OMIM:618734 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618734"} ! inherited genetic disease +is_a: MONDO:0016483 {source="OMIM:618734"} ! intracranial berry aneurysm + +[Term] +id: MONDO:0032892 +name: structural brain anomalies with impaired intellectual development and craniosynostosis +synonym: "STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS" RELATED [OMIM:618736] +xref: OMIM:618736 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618736"} ! inherited genetic disease + +[Term] +id: MONDO:0032893 +name: pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures +synonym: "PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS" RELATED [OMIM:618737] +xref: OMIM:618737 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618737"} ! inherited genetic disease + +[Term] +id: MONDO:0032894 +name: neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy +synonym: "NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA" RELATED [OMIM:618741] +xref: OMIM:618741 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618741"} ! inherited genetic disease + +[Term] +id: MONDO:0032895 +name: epileptic encephalopathy, early infantile, 83 +synonym: "Barakat-Perenthaler Syndrome" RELATED [OMIM:618744] +synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83; EIEE83" RELATED [OMIM:618744] +xref: OMIM:618744 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618744"} ! inherited genetic disease +is_a: MONDO:0016021 {source="OMIM:618744"} ! early infantile epileptic encephalopathy + +[Term] +id: MONDO:0032896 +name: spermatogenic failure 42 +synonym: "SPERMATOGENIC FAILURE 42; SPGF42" RELATED [OMIM:618745] +xref: OMIM:618745 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618745"} ! inherited genetic disease +is_a: MONDO:0004983 {source="OMIM:618745"} ! azoospermia + +[Term] +id: MONDO:0032897 +name: intellectual developmental disorder with hypotonia and behavioral abnormalities +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA" RELATED [OMIM:618748] +xref: OMIM:618748 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618748"} ! inherited genetic disease + +[Term] +id: MONDO:0032898 +name: spermatogenic failure 43 +synonym: "SPERMATOGENIC FAILURE 43; SPGF43" RELATED [OMIM:618751] +xref: OMIM:618751 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618751"} ! inherited genetic disease +is_a: MONDO:0004983 {source="OMIM:618751"} ! azoospermia + +[Term] +id: MONDO:0032899 +name: neutropenia, severe congenital, 8, autosomal dominant +synonym: "Neutropenia, Severe Congenital, 8, Autosomal Dominant, With or Without Pancreatic Dysfunction And/Or Neurologic Abnormalities" RELATED [OMIM:618752] +synonym: "NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8" RELATED [OMIM:618752] +synonym: "Shwachman-Diamond Syndrome-Like" RELATED [OMIM:618752] +xref: OMIM:618752 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618752"} ! inherited genetic disease +is_a: MONDO:0018542 {source="OMIM:618752"} ! severe congenital neutropenia + +[Term] +id: MONDO:0032900 +name: neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements +synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM" RELATED [OMIM:618760] +xref: OMIM:618760 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618760"} ! inherited genetic disease + +[Term] +id: MONDO:0032901 +name: catifa syndrome +synonym: "CATIFA SYNDROME; CATIFA" RELATED [OMIM:618761] +synonym: "Cleft Lip, Cataract, Tooth Abnormality, Impaired Intellectual Development, Facial Dysmorphism, and Attention-Deficit Hyperactivity Disorder" RELATED [OMIM:618761] +xref: OMIM:618761 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618761"} ! inherited genetic disease + +[Term] +id: MONDO:0032902 +name: joubert syndrome 36 +synonym: "JOUBERT SYNDROME 36; JBTS36" RELATED [OMIM:618763] +xref: OMIM:618763 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618763"} ! inherited genetic disease +is_a: MONDO:0018772 {source="OMIM:618763"} ! Joubert syndrome + +[Term] +id: MONDO:0032903 +name: arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum +synonym: "ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMCNACC" RELATED [OMIM:618766] +synonym: "Zain Syndrome" RELATED [OMIM:618766] +xref: OMIM:618766 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618766"} ! inherited genetic disease + +[Term] +id: MONDO:0032904 +name: corneal dystrophy, meesmann, 2 +synonym: "CORNEAL DYSTROPHY, MEESMANN, 2; MECD2" RELATED [OMIM:618767] +xref: OMIM:618767 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618767"} ! inherited genetic disease +is_a: MONDO:0007379 {source="OMIM:618767"} ! Meesmann corneal dystrophy + +[Term] +id: MONDO:0032905 +name: spastic paraplegia 81, autosomal recessive +synonym: "SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81" RELATED [OMIM:618768] +xref: OMIM:618768 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618768"} ! inherited genetic disease +is_a: MONDO:0019064 {source="OMIM:618768"} ! hereditary spastic paraplegia + +[Term] +id: MONDO:0032906 +name: spastic paraplegia 82, autosomal recessive +synonym: "SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82" RELATED [OMIM:618770] +xref: OMIM:618770 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618770"} ! inherited genetic disease +is_a: MONDO:0019064 {source="OMIM:618770"} ! hereditary spastic paraplegia + +[Term] +id: MONDO:0032907 +name: lymphatic malformation 8 +synonym: "LYMPHATIC MALFORMATION 8; LMPHM8" RELATED [OMIM:618773] +xref: OMIM:618773 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618773"} ! inherited genetic disease +is_a: MONDO:0019313 {source="OMIM:618773"} ! hereditary lymphedema + +[Term] +id: MONDO:0032908 +name: cebalid syndrome +synonym: "CEBALID SYNDROME; CEBALID" RELATED [OMIM:618774] +synonym: "Craniofacial Defects, Dysmorphic Ears, Structural Brain Abnormalities, Expressive Language Delay, and Impaired Intellectual Development" RELATED [OMIM:618774] +xref: OMIM:618774 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618774"} ! inherited genetic disease + +[Term] +id: MONDO:0032909 +name: mitochondrial complex 3 deficiency, nuclear type 10 +synonym: "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10" RELATED [OMIM:618775] +xref: OMIM:618775 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618775"} ! inherited genetic disease +is_a: MONDO:0020811 {source="OMIM:618775"} ! mitochondrial complex III deficiency, nuclear type + +[Term] +id: MONDO:0032910 +name: mitochondrial complex 1 deficiency, nuclear type 34 +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34" RELATED [OMIM:618776] +xref: OMIM:618776 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618776"} ! inherited genetic disease +is_a: MONDO:0009640 {source="OMIM:618776"} ! mitochondrial complex I deficiency + +[Term] +id: MONDO:0032911 +name: deafness, autosomal dominant 75 +synonym: "DEAFNESS, AUTOSOMAL DOMINANT 75; DFNA75" RELATED [OMIM:618778] +xref: OMIM:618778 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618778"} ! inherited genetic disease +is_a: MONDO:0019587 {source="OMIM:618778"} ! autosomal dominant nonsyndromic deafness + +[Term] +id: MONDO:0032912 +name: coffin-siris syndrome 11 +synonym: "COFFIN-SIRIS SYNDROME 11; CSS11" RELATED [OMIM:618779] +xref: OMIM:618779 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618779"} ! inherited genetic disease +is_a: MONDO:0015452 {source="OMIM:618779"} ! Coffin-Siris syndrome + +[Term] +id: MONDO:0032913 +name: congenital heart defects, multiple types, 7 +synonym: "CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7" RELATED [OMIM:618780] +xref: OMIM:618780 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618780"} ! inherited genetic disease + +[Term] +id: MONDO:0032914 +name: ciliary dyskinesia, primary, 44 +synonym: "Ciliary Dyskinesia, Primary, 44, Without Situs Inversus" RELATED [OMIM:618781] +synonym: "CILIARY DYSKINESIA, PRIMARY, 44; CILD44" RELATED [OMIM:618781] +xref: OMIM:618781 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618781"} ! inherited genetic disease +is_a: MONDO:0016575 {source="OMIM:618781"} ! primary ciliary dyskinesia + +[Term] +id: MONDO:0032915 +name: long qt syndrome 16 +synonym: "LONG QT SYNDROME 16; LQT16" RELATED [OMIM:618782] +synonym: "Ventricular Tachycardia, Catecholaminergic Polymorphic 6" RELATED [OMIM:618782] +xref: OMIM:618782 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618782"} ! inherited genetic disease +is_a: MONDO:0017990 {source="OMIM:618782"} ! catecholaminergic polymorphic ventricular tachycardia +is_a: MONDO:0019171 {source="OMIM:618782"} ! familial long QT syndrome + +[Term] +id: MONDO:0032916 +name: imagawa-matsumoto syndrome +synonym: "IMAGAWA-MATSUMOTO SYNDROME; IMMAS" RELATED [OMIM:618786] +xref: OMIM:618786 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618786"} ! inherited genetic disease + +[Term] +id: MONDO:0032917 +name: deafness, autosomal dominant 76 +synonym: "DEAFNESS, AUTOSOMAL DOMINANT 76; DFNA76" RELATED [OMIM:618787] +xref: OMIM:618787 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618787"} ! inherited genetic disease +is_a: MONDO:0019587 {source="OMIM:618787"} ! autosomal dominant nonsyndromic deafness + +[Term] +id: MONDO:0032918 +name: epileptic encephalopathy, early infantile, 84 +synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84; EIEE84" RELATED [OMIM:618792] +synonym: "Jamuar Syndrome" RELATED [OMIM:618792] +xref: OMIM:618792 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618792"} ! inherited genetic disease +is_a: MONDO:0016021 {source="OMIM:618792"} ! early infantile epileptic encephalopathy + +[Term] +id: MONDO:0032919 +name: intellectual developmental disorder 62 +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 62; MRD62" RELATED [OMIM:618793] +synonym: "Mental Retardation, Autosomal Dominant 62" RELATED [OMIM:618793] +xref: OMIM:618793 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618793"} ! inherited genetic disease +is_a: MONDO:0015802 {source="OMIM:618793"} ! autosomal dominant non-syndromic intellectual disability + +[Term] +id: MONDO:0032920 +name: juvenile arthritis due to defect in LACC1 +synonym: "JUVENILE ARTHRITIS; JUVAR" RELATED [OMIM:618795] +xref: OMIM:618795 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618795"} ! inherited genetic disease + +[Term] +id: MONDO:0032921 +name: neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation +synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT" RELATED [OMIM:618797] +xref: OMIM:618797 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618797"} ! inherited genetic disease + +[Term] +id: MONDO:0032922 +name: beck-fahrner syndrome +synonym: "BECK-FAHRNER SYNDROME; BEFAHRS" RELATED [OMIM:618798] +xref: OMIM:618798 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618798"} ! inherited genetic disease + +[Term] +id: MONDO:0032923 +name: spinocerebellar ataxia, autosomal recessive 28 +synonym: "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28" RELATED [OMIM:618800] +xref: OMIM:618800 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618800"} ! inherited genetic disease +is_a: MONDO:0015244 {source="OMIM:618800"} ! autosomal recessive cerebellar ataxia + +[Term] +id: MONDO:0032924 +name: ciliary dyskinesia, primary, 45 +synonym: "Ciliary Dyskinesia, Primary, 45, Without Situs Inversus" RELATED [OMIM:618801] +synonym: "CILIARY DYSKINESIA, PRIMARY, 45; CILD45" RELATED [OMIM:618801] +xref: OMIM:618801 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618801"} ! inherited genetic disease +is_a: MONDO:0016575 {source="OMIM:618801"} ! primary ciliary dyskinesia + +[Term] +id: MONDO:0032925 +name: respiratory papillomatosis, juvenile recurrent, congenital +synonym: "RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP" RELATED [OMIM:618803] +xref: OMIM:618803 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618803"} ! inherited genetic disease + +[Term] +id: MONDO:0032926 +name: sandestig-stefanova syndrome +synonym: "SANDESTIG-STEFANOVA SYNDROME; SANDSTEF" RELATED [OMIM:618804] +xref: OMIM:618804 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618804"} ! inherited genetic disease + +[Term] +id: MONDO:0032927 +name: triokinase and FMN cyclase deficiency syndrome +synonym: "TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD" RELATED [OMIM:618805] +xref: OMIM:618805 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618805"} ! inherited genetic disease + +[Term] +id: MONDO:0032928 +name: T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant +synonym: "T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND" RELATED [OMIM:618806] +xref: OMIM:618806 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618806"} ! inherited genetic disease + +[Term] +id: MONDO:0032930 +name: intellectual developmental disorder with poor growth and with or without seizures or ataxia +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA" RELATED [OMIM:618808] +xref: OMIM:618808 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618808"} ! inherited genetic disease + +[Term] +id: MONDO:0032931 +name: pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +synonym: "Chromosome 1P36.33 Deletion Syndrome, Atad3 Gene Cluster, Autosomal Recessive" RELATED [OMIM:618810] +synonym: "Phrinl Syndrome" RELATED [OMIM:618810] +synonym: "PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL" RELATED [OMIM:618810] +xref: OMIM:618810 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618810"} ! inherited genetic disease + +[Term] +id: MONDO:0032932 +name: mitochondrial dna depletion syndrome 18 +synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18" RELATED [OMIM:618811] +xref: OMIM:618811 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618811"} ! inherited genetic disease +is_a: MONDO:0018158 {source="OMIM:618811"} ! mitochondrial DNA depletion syndrome + +[Term] +id: MONDO:0032933 +name: chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant +synonym: "CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT" RELATED [OMIM:618815] +xref: OMIM:618815 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618815"} ! inherited genetic disease + +[Term] +id: MONDO:0032934 +name: genitourinary and/or brain malformation syndrome +synonym: "GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS" RELATED [OMIM:618820] +xref: OMIM:618820 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618820"} ! inherited genetic disease + +[Term] +id: MONDO:0032935 +name: rhizomelic limb shortening with dysmorphic features +synonym: "RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF" RELATED [OMIM:618821] +xref: OMIM:618821 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618821"} ! inherited genetic disease + +[Term] +id: MONDO:0032936 +name: myopathy, congenital, with respiratory insufficiency and bone fractures +synonym: "MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF" RELATED [OMIM:618822] +xref: OMIM:618822 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618822"} ! inherited genetic disease + +[Term] +id: MONDO:0032937 +name: myopathy, congenital proximal, with minicore lesions +synonym: "MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL" RELATED [OMIM:618823] +xref: OMIM:618823 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618823"} ! inherited genetic disease + +[Term] +id: MONDO:0032938 +name: basal ganglia calcification, idiopathic, 8, autosomal recessive +synonym: "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8" RELATED [OMIM:618824] +xref: OMIM:618824 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618824"} ! inherited genetic disease +is_a: MONDO:0008947 {source="OMIM:618824"} ! bilateral striopallidodentate calcinosis + +[Term] +id: MONDO:0032939 +name: intellectual developmental disorder, autosomal dominant 63, with macrocephaly +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63" RELATED [OMIM:618825] +synonym: "Mental Retardation, Autosomal Dominant 63, With Macrocephaly" RELATED [OMIM:618825] +xref: OMIM:618825 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618825"} ! inherited genetic disease +is_a: MONDO:0015802 {source="OMIM:618825"} ! autosomal dominant non-syndromic intellectual disability + +[Term] +id: MONDO:0032940 +name: retinitis pigmentosa 88 +synonym: "RETINITIS PIGMENTOSA 88; RP88" RELATED [OMIM:618826] +xref: OMIM:618826 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618826"} ! inherited genetic disease +is_a: MONDO:0019200 {source="OMIM:618826"} ! retinitis pigmentosa + +[Term] +id: MONDO:0032941 +name: myopia 27 +synonym: "MYOPIA 27; MYP27" RELATED [OMIM:618827] +xref: OMIM:618827 {source="MONDO:equivalentTo"} +is_a: MONDO:0001384 {source="OMIM:618827"} ! myopia (disease) +is_a: MONDO:0003847 {source="OMIM:618827"} ! inherited genetic disease + +[Term] +id: MONDO:0032942 +name: neurodevelopmental disorder with microcephaly and dysmorphic facies +synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND DYSMORPHIC FACIES; NEDMIDF" RELATED [OMIM:618828] +xref: OMIM:618828 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618828"} ! inherited genetic disease + +[Term] +id: MONDO:0032943 +name: neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies +synonym: "NEURODEVELOPMENTAL DISORDER WITH RELATIVE MACROCEPHALY AND WITH OR WITHOUT CARDIAC OR ENDOCRINE ANOMALIES; NEDMACE" RELATED [OMIM:618829] +xref: OMIM:618829 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:618829"} ! inherited genetic disease + [Term] id: MONDO:0033004 name: polycystic kidney disease 4 @@ -415004,6 +417962,12 @@ is_a: MONDO:0024237 {source="Orphanet:478029"} ! inherited neurodegenerative dis relationship: has_modifier HP:0000007 {source="Orphanet:478029"} ! Autosomal recessive inheritance relationship: RO:0004001 http://identifiers.org/hgnc/17772 {source="Orphanet:478029"} ! has material basis in gain of function germline mutation in TXN2 +[Term] +id: MONDO:0033196 +name: obsolete skin/hair/eye pigmentation, variation in +xref: OMIMPS:227220 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true + [Term] id: MONDO:0033198 name: deafness, autosomal recessive 106 @@ -415977,7 +418941,14 @@ is_a: MONDO:0024237 {source="Orphanet:556985"} ! inherited neurodegenerative dis id: MONDO:0034145 name: oculocerebrodental syndrome subset: ordo_disease -xref: Orphanet:557003 {source="MONDO:equivalentTo"} +synonym: "Cataracts, Early-Onset, With Skeletal and Dental Anomalies" RELATED [OMIM:618440] +synonym: "OCSKD" RELATED [OMIM:618440] +synonym: "oculoskeletodental syndrome" RELATED [OMIM:618440] +synonym: "oculoskeletodental syndrome; OCSKD" RELATED [OMIM:618440] +xref: OMIM:618440 {source="MONDO:equivalentTo"} +xref: Orphanet:557003 {source="MONDO:equivalentTo", source="OMIM:618440"} +xref: UMLS:C5193101 {source="OMIM:618440"} +is_a: MONDO:0003847 {source="OMIM:618440"} ! inherited genetic disease is_a: MONDO:0005308 {source="Orphanet:557003"} ! ciliopathy is_a: MONDO:0015159 {source="Orphanet:557003"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019183 {source="Orphanet:557003"} ! inherited odontologic disease @@ -429800,8 +432771,13 @@ created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: MONDO:0100095 name: neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures +alt_id: MONDO:0032576 def: "Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene." [https://orcid.org/0000-0002-4650-631X, PMID:3010008, PMID:30401461] synonym: "CONDSIAS" EXACT [] +synonym: "NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES; CONDSIAS" RELATED [OMIM:618170] +xref: OMIM:618170 {source="MONDO:equivalentTo"} +xref: UMLS:C4748527 {source="OMIM:618170"} +is_a: MONDO:0003847 {source="OMIM:618170"} ! inherited genetic disease is_a: MONDO:0024237 ! inherited neurodegenerative disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21304 ! ADPRHL2 relationship: has_modifier HP:0000007 {source="PMID:30401461"} ! Autosomal recessive inheritance From 225ced4997488a19f2cce23197a5a0b2a2b03bc4 Mon Sep 17 00:00:00 2001 From: cmungall Date: Tue, 28 Apr 2020 21:14:09 -0700 Subject: [PATCH 12/13] norm --- src/ontology/mondo-edit.obo | 13 ++++--------- 1 file changed, 4 insertions(+), 9 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index ae08dbb2d1..e1ee6dc820 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -370692,11 +370692,14 @@ relationship: disease_has_feature HP:0001159 ! Syndactyly [Term] id: MONDO:0019531 +alt_id: MONDO:0032856 name: hemolytic anemia due to glutathione reductase deficiency def: "Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes." [Orphanet:90030] subset: ordo_disease {source="Orphanet:90030"} +synonym: "HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY" RELATED [OMIM:618660] xref: ICD10:D55.1 {source="Orphanet:90030", source="ORDO:90030/attributed", source="ORDO:90030/ntbt"} -xref: Orphanet:90030 {source="MONDO:equivalentTo"} +xref: OMIM:618660 {source="MONDO:equivalentTo"} +xref: Orphanet:90030 {source="MONDO:equivalentTo", source="OMIM:618660"} is_a: MONDO:0020105 {source="Orphanet:90030"} ! hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies [Term] @@ -416975,14 +416978,6 @@ xref: OMIM:618659 {source="MONDO:equivalentTo"} xref: Orphanet:528084 {source="OMIM:618659"} is_a: MONDO:0003847 {source="OMIM:618659"} ! inherited genetic disease -[Term] -id: MONDO:0032856 -name: hemolytic anemia due to glutathione reductase deficiency -synonym: "HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY" RELATED [OMIM:618660] -xref: OMIM:618660 {source="MONDO:equivalentTo"} -xref: Orphanet:90030 {source="OMIM:618660"} -is_a: MONDO:0003847 {source="OMIM:618660"} ! inherited genetic disease - [Term] id: MONDO:0032857 name: diarrhea 11, malabsorptive, congenital From 6cff57e7ffc606e96fa652ddc1eccf852040e104 Mon Sep 17 00:00:00 2001 From: cmungall Date: Tue, 28 Apr 2020 22:26:28 -0700 Subject: [PATCH 13/13] partial fix for CSS8, see #1466 --- src/ontology/mondo-edit.obo | 5 +++-- 1 file changed, 3 insertions(+), 2 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index e1ee6dc820..4ad029cf12 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -415766,14 +415766,15 @@ is_a: MONDO:0005579 {source="OMIM:618357"} ! epilepsy, idiopathic generalized [Term] id: MONDO:0032702 -name: coffin-siris syndrome 8 +name: Coffin-Siris syndrome 8 +comment: Editor note: Fix placement after https://github.com/monarch-initiative/mondo/issues/1466 synonym: "COFFIN-SIRIS SYNDROME 8; CSS8" RELATED [OMIM:618362] xref: OMIM:618362 {source="MONDO:equivalentTo"} xref: Orphanet:1465 {source="OMIM:618362"} xref: UMLS:C5193054 {source="OMIM:618362"} is_a: MONDO:0003847 {source="OMIM:618362"} ! inherited genetic disease is_a: MONDO:0015452 {source="OMIM:618362"} ! Coffin-Siris syndrome -is_a: MONDO:0015802 {source="OMIM:618362"} ! autosomal dominant non-syndromic intellectual disability +property_value: excluded_subClassOf MONDO:0015802 {source="OMIM:618362", source="https://github.com/monarch-initiative/mondo/issues/1466"} ! autosomal dominant non-syndromic intellectual disability [Term] id: MONDO:0032703