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obsolete absent thumb-short stature-immunodeficiency syndrome #7105

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Jan 8, 2024
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obsolete absent thumb-short stature-immunodeficiency syndrome #7105

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21 changes: 8 additions & 13 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -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
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