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Exact synonym CTPS1 related combined ID
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Closes #8178
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yshwetar committed Nov 14, 2024
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2 changes: 2 additions & 0 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -331793,6 +331793,7 @@ subset: ordo_disorder {source="Orphanet:420573"}
subset: orphanet_rare {source="Orphanet:420573"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CTPS1 related combined immunodeficiency" EXACT CLINGEN_LABEL []
synonym: "IMD24" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615897]
synonym: "immunodeficiency 24" RELATED [MONDO:Lexical, OMIM:615897]
synonym: "immunodeficiency type 24" EXACT [MONDORULE:2, OMIM:615897]
Expand All @@ -331807,6 +331808,7 @@ xref: SCTID:763623001 {source="MONDO:equivalentTo"}
xref: UMLS:C4014617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863054"}
is_a: MONDO:0044201 {source="Orphanet:420573"} ! T+ B+ severe combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2519 {source="MONDO:mim2gene_medgen"} ! CTPS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8178" xsd:string

[Term]
id: MONDO:0014392
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