From d9a1f589b9e987547e094fe21e6665efb57d0123 Mon Sep 17 00:00:00 2001 From: Yousif Date: Thu, 14 Nov 2024 09:49:43 -0500 Subject: [PATCH] Exact synonym CTPS1 related combined ID Closes #8178 --- 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 59c683ffc..20ed0da21 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -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] @@ -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