From 62b6ddb1e21d069a685ee40ed4bcbfdc84ae0cec Mon Sep 17 00:00:00 2001 From: Sabrina Toro Date: Thu, 14 Nov 2024 12:30:31 -0800 Subject: [PATCH] updated Trimethylaminuria (#8397) * updated Trimethylaminuria Closes #8062 This PR replaces the original PR https://github.com/monarch-initiative/mondo/pull/8385 * Update mondo-edit.obo --- src/ontology/mondo-edit.obo | 3 ++- 1 file changed, 2 insertions(+), 1 deletion(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 4051b784a..e7c899247 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -251626,7 +251626,7 @@ 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 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 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"} @@ -251652,6 +251652,7 @@ 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:anyURI property_value: IAO:0000589 "trimethylaminuria (disease)" xsd:string [Term]