diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index f582376891..0e01c3c2f8 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -222692,12 +222692,14 @@ xref: ICD10CM:E03.1 {source="Orphanet:95716/attributed", source="Orphanet:95716/ xref: MEDGEN:903446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564766 {source="MONDO:equivalentTo"} xref: NCIT:C121751 {source="MONDO:equivalentTo"} +xref: OMIMPS:274400 {source="MONDO:equivalentTo"} xref: Orphanet:95716 {source="MONDO:equivalentTo", source="OMIM:274400"} xref: SCTID:718183003 {source="MONDO:equivalentTo"} xref: UMLS:C4273748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903446"} is_a: MONDO:0018612 {source="DOID:0112183", source="MESH:C564766", source="MONDO:Redundant", source="NCIT:C121751", source="Orphanet:95716/inferred"} ! congenital hypothyroidism relationship: disease_has_basis_in_disruption_of GO:0042403 ! thyroid hormone metabolic process relationship: has_characteristic MONDO:0021140 ! congenital +relationship: has_characteristic MONDO:0021152 {source="OMIMPS:274400"} ! inherited property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/642" xsd:anyURI [Term] @@ -465326,14 +465328,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020716 -name: familial thyroid dyshormonogenesis 1 +name: thyroid dyshormonogenesis 1 subset: gard_rare {source="GARD:18188", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare +synonym: "familial thyroid dyshormonogenesis 1" EXACT [OMIM:274400] synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 1" EXACT [OMIM:274400] synonym: "iodine accumulation, transport, or trapping defect" EXACT [OMIM:274400] synonym: "TDH1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:274400] -synonym: "thyroid dyshormonogenesis 1" EXACT [MONDO:Lexical, OMIM:274400] synonym: "thyroid dyshormonogenesis type 1" EXACT [MONDORULE:1, OMIM:274400] synonym: "thyroid hormonogenesis, genetic defect in, 1" EXACT [OMIM:274400] xref: DOID:0112185 {source="MONDO:equivalentTo"} @@ -504890,6 +504892,7 @@ xref: DOID:0060952 {source="MONDO:equivalentTo"} xref: MEDGEN:1823995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620056 {source="MONDO:equivalentTo"} xref: UMLS:C5774222 {source="MONDO:equivalentTo", source="MEDGEN:1823995", source="MONDO:MEDGEN"} +is_a: MONDO:0004691 {source="OMIM:620056", source="https://orcid.org/0000-0002-4142-7153"} ! autosomal dominant polycystic kidney disease is_a: MONDO:0020642 {source="OMIM:620056"} ! polycystic kidney disease [Term] @@ -558378,9 +558381,10 @@ is_a: MONDO:0043878 {source="OMIM:620550"} ! hereditary optic atrophy [Term] id: MONDO:0957825 -name: deafness, autosomal recessive 121 +name: hearing loss, autosomal recessive 121 subset: gard_rare {source="MONDO:GARD"} subset: rare +synonym: "deafness, autosomal recessive 121" NARROW [OMIM:620551] xref: OMIM:620551 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:620551"} ! hereditary disease is_a: MONDO:0019588 {source="OMIM:620551"} ! hearing loss, autosomal recessive @@ -560690,6 +560694,94 @@ subset: rare xref: OMIM:620865 {source="MONDO:equivalentTo"} is_a: MONDO:0020066 {source="OMIM:620865", source="https://orcid.org/0000-0002-4142-7153"} ! Ehlers-Danlos syndrome +[Term] +id: MONDO:0971149 +name: spastic paraplegia 30b, autosomal recessive +xref: OMIM:620607 {source="MONDO:equivalentTo"} +is_a: MONDO:0019064 {source="OMIM:620607", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia + +[Term] +id: MONDO:0971150 +name: neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity +xref: OMIM:620854 {source="MONDO:equivalentTo"} +is_a: MONDO:0015363 {source="OMIM:620854", source="https://orcid.org/0000-0002-4142-7153"} ! neuronopathy, distal hereditary motor, autosomal recessive + +[Term] +id: MONDO:0971151 +name: immunodeficiency 122 +xref: OMIM:620869 {source="MONDO:equivalentTo"} +is_a: MONDO:0021094 {source="OMIM:620869", source="https://orcid.org/0000-0002-4142-7153"} ! immunodeficiency disease + +[Term] +id: MONDO:0971152 +name: hearing loss, autosomal recessive 125 +synonym: "deafness, autosomal recessive 125" NARROW [https://orcid.org/0000-0002-4142-7153, OMIM:620877] +xref: OMIM:620877 {source="MONDO:equivalentTo"} +is_a: MONDO:0019588 {source="OMIM:620877", source="https://orcid.org/0000-0002-4142-7153"} ! hearing loss, autosomal recessive +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql + +[Term] +id: MONDO:0971170 +name: prostate cancer, hereditary, X-linked 3 +xref: OMIM:301120 {source="MONDO:equivalentTo"} +is_a: MONDO:0015356 {source="OMIM:301120", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary neoplastic syndrome + +[Term] +id: MONDO:0971171 +name: muscular dystrophy, limb-girdle, autosomal recessive 29 +xref: OMIM:620793 {source="MONDO:equivalentTo"} +is_a: MONDO:0015152 {source="OMIM:620793", source="https://orcid.org/0000-0002-4142-7153"} ! autosomal recessive limb-girdle muscular dystrophy + +[Term] +id: MONDO:0971172 +name: neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language +xref: OMIM:620851 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:620851", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary disease +is_a: MONDO:0700092 {source="OMIM:620851", source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder + +[Term] +id: MONDO:0971173 +name: autoinflammation with arthritis and vasculitis +xref: OMIM:620880 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="OMIM:620880", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary disease + +[Term] +id: MONDO:0971174 +name: multiple mitochondrial dysfunctions syndrome 9b +xref: OMIM:620887 {source="MONDO:equivalentTo"} +is_a: MONDO:0017338 {source="OMIM:620887", source="https://orcid.org/0000-0002-4142-7153"} ! fatal multiple mitochondrial dysfunctions syndrome + +[Term] +id: MONDO:0971175 +name: cardiomyopathy, dilated, 2K +xref: OMIM:620894 {source="MONDO:equivalentTo"} +is_a: MONDO:0016333 {source="OMIM:620894", source="https://orcid.org/0000-0002-4142-7153"} ! familial dilated cardiomyopathy + +[Term] +id: MONDO:0971176 +name: ovarian dysgenesis 11 +xref: OMIM:620897 {source="MONDO:equivalentTo"} +is_a: MONDO:0009299 {source="OMIM:620897", source="https://orcid.org/0000-0002-4142-7153"} ! 46 XX gonadal dysgenesis + +[Term] +id: MONDO:0971177 +name: immunodeficiency 123 with HPV-related verrucosis +xref: OMIM:620901 {source="MONDO:equivalentTo"} +is_a: MONDO:0021094 {source="OMIM:620901", source="https://orcid.org/0000-0002-4142-7153"} ! immunodeficiency disease + +[Term] +id: MONDO:0971178 +name: polycystic kidney disease 8 +xref: OMIM:620903 {source="MONDO:equivalentTo"} +is_a: MONDO:0004691 {source="OMIM:620903", source="https://orcid.org/0000-0002-4142-7153"} ! autosomal dominant polycystic kidney disease +is_a: MONDO:0020642 {source="OMIM:620903", source="https://orcid.org/0000-0002-4142-7153"} ! polycystic kidney disease + +[Term] +id: MONDO:0971179 +name: arterial tortuosity-bone fragility syndrome +xref: OMIM:620908 {source="MONDO:equivalentTo"} +is_a: MONDO:0002254 {source="OMIM:620908", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease + [Term] id: MONDO:1010000 name: pythiosis