From 69554dfa329a70839e1496bab54d20cfa60679b0 Mon Sep 17 00:00:00 2001 From: Yousif Date: Thu, 14 Nov 2024 10:29:18 -0500 Subject: [PATCH 1/2] Update Trimethylaminuria Classification Closes #8062 - Changed definition - Removed Synonyms that were for primary term - Added GH tracker to both terms --- src/ontology/mondo-edit.obo | 6 +++--- 1 file changed, 3 insertions(+), 3 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 59c683ffc..ee7e9e866 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -251624,15 +251624,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011182 name: trimethylaminuria -def: "A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals." [Orphanet:468726] +def: "A rare inborn error of metabolism characterized by excess trimethylamine within the body. Excreted in urine, sweat, and breath, resulting in a fishy body odor in affected individuals." [OMIM:602079] subset: clingen {source="MONDO:CLINGEN"} subset: inferred_rare subset: otar {source="MONDO:OTAR"} subset: rare synonym: "fish malodor syndrome" RELATED [GARD:0006447] synonym: "fish odor syndrome" EXACT [GARD:0006447, Orphanet:35056] -synonym: "fish odour syndrome" EXACT OMO:0003005 [] -synonym: "fish-odor syndrome" EXACT [OMIM:602079] synonym: "stale fish syndrome" RELATED [GARD:0006447] synonym: "TMAU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602079] synonym: "TMAuria" RELATED [GARD:0006447] @@ -251650,6 +251648,7 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond relationship: disease_has_basis_in_disruption_of GO:0047865 {source="OMIM:602079"} ! dimethylglycine dehydrogenase activity relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3448" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8062" xsd:string property_value: IAO:0000589 "trimethylaminuria (disease)" xsd:string [Term] @@ -423292,6 +423291,7 @@ relationship: excluded_subClassOf MONDO:0019189 {source="Orphanet:468726", sourc property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3448" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8062" xsd:string [Term] id: MONDO:0018768 From 741d11765bbac6fdaecb39e996f97ace32c93cfd Mon Sep 17 00:00:00 2001 From: Yousif Date: Thu, 14 Nov 2024 14:03:28 -0500 Subject: [PATCH 2/2] Revised definition and dbxref --- src/ontology/mondo-edit.obo | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index ee7e9e866..ef1d01e3d 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -251624,7 +251624,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011182 name: trimethylaminuria -def: "A rare inborn error of metabolism characterized by excess trimethylamine within the body. Excreted in urine, sweat, and breath, resulting in a fishy body odor in affected individuals." [OMIM:602079] +def: "A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals." [https://orcid.org/0000-0002-0587-4693] subset: clingen {source="MONDO:CLINGEN"} subset: inferred_rare subset: otar {source="MONDO:OTAR"}