From 3a37c52f6060868840bf4386e8653ae2b2d71759 Mon Sep 17 00:00:00 2001 From: Nicole Vasilevsky Date: Fri, 5 Jan 2024 14:50:44 -0800 Subject: [PATCH] obsolete absent thumb-short stature-immunodeficiency syndrome CLOSE #6770 --- src/ontology/mondo-edit.obo | 21 ++++++++------------- 1 file changed, 8 insertions(+), 13 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 9658f0b37c..248f8d4dd1 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -210484,29 +210484,24 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010123 -name: absent thumb-short stature-immunodeficiency syndrome -def: "An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978." [Orphanet:2951] -comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -none +name: obsolete absent thumb-short stature-immunodeficiency syndrome +def: "OBSOLETE. An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978." [Orphanet:2951] subset: gard_rare {source="GARD:16615"} -subset: obsoletion_candidate subset: ordo_malformation_syndrome {source="Orphanet:2951"} subset: orphanet_rare {source="Orphanet:2951"} subset: rare synonym: "thumb agenesis, short stature, and immunodeficiency" RELATED [OMIM:274190] xref: GARD:16615 {source="Orphanet:2951"} xref: ICD10CM:D82.8 {source="Orphanet:2951/attributed", source="Orphanet:2951/ntbt", source="Orphanet:2951"} -xref: MESH:C564770 {source="MONDO:equivalentTo"} -xref: OMIM:274190 {source="Orphanet:2951", source="MONDO:equivalentTo", source="Orphanet:2951/e"} -xref: Orphanet:2951 {source="OMIM:274190", source="MONDO:equivalentTo"} -xref: UMLS:C1848818 {source="OMIM:274190", source="Orphanet:2951", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-7941-2961"} ! syndromic disease -is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease -is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder -property_value: confidence "8.6" xsd:double +xref: MESH:C564770 {source="MONDO:obsoleteEquivalent"} +xref: OMIM:274190 {source="MONDO:obsoleteEquivalent", source="Orphanet:2951", source="Orphanet:2951/e"} +xref: Orphanet:2951 {source="OMIM:274190", source="MONDO:obsoleteEquivalent"} +xref: UMLS:C1848818 {source="OMIM:274190", source="MONDO:obsoleteEquivalent", source="Orphanet:2951", source="MONDO:ncbi_mim2gene_medline"} +property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6770" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI -property_value: IAO:0006012 "2024-02-02" xsd:string +is_obsolete: true [Term] id: MONDO:0010124