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Update Trimethylaminuria Classification #8385

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Update Trimethylaminuria Classification #8385

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Update Trimethylaminuria Classification
yshwetar Nov 14, 2024
741d117
Revised definition and dbxref
yshwetar Nov 14, 2024
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6 changes: 3 additions & 3 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -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 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"}
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]
Expand All @@ -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
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This should be a xsd:URI.

property_value: IAO:0000589 "trimethylaminuria (disease)" xsd:string

[Term]
Expand Down Expand Up @@ -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
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This is very weird... It is a "term" but it has the x-ref... I will take a look in the obo file


[Term]
id: MONDO:0018768
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