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updated Trimethylaminuria (#8397)
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* updated Trimethylaminuria

Closes #8062

This PR replaces the original PR #8385

* Update mondo-edit.obo
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sabrinatoro authored Nov 14, 2024
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3 changes: 2 additions & 1 deletion src/ontology/mondo-edit.obo
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Expand Up @@ -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"}
Expand All @@ -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]
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