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add orphanet x-ref (#7476)
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* add orphanet x-ref

Closes #7361

* Update mondo-edit.obo
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sabrinatoro committed Mar 26, 2024
1 parent f0c1040 commit e58a54b
Showing 1 changed file with 3 additions and 2 deletions.
5 changes: 3 additions & 2 deletions src/ontology/mondo-edit.obo
Original file line number Diff line number Diff line change
Expand Up @@ -8647,6 +8647,8 @@ def: "An amino acid metabolic disorder characterized by impairment of the GABA c
subset: inferred_rare
subset: rare
xref: DOID:0060176 {source="MONDO:equivalentTo"}
xref: GARD:18955 {source="MONDO:equivalentTo", source="Orphanet:79175"}
xref: Orphanet:79175 {source="MONDO:equivalentTo"}
is_a: MONDO:0004736 {source="DOID:0060176", source="MONDO:Entailed"} ! inborn disorder of amino acid metabolism
intersection_of: MONDO:0004736 ! inborn disorder of amino acid metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0009450 ! gamma-aminobutyric acid catabolic process
Expand Down Expand Up @@ -415193,15 +415195,14 @@ synonym: "disorder of gamma-aminobutyric acid metabolism" RELATED [Orphanet:7917
synonym: "inborn error of gamma-aminobutyric acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn gamma-aminobutyric acid metabolic process disorder" EXACT []
synonym: "rare inborn error of gamma-aminobutyric acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:18955 {source="MONDO:obsoleteEquivalent", source="Orphanet:79175"}
xref: ICD10CM:E72.8 {source="Orphanet:79175", source="Orphanet:79175/attributed", source="Orphanet:79175/ntbt"}
xref: Orphanet:79175 {source="MONDO:obsoleteEquivalent"}
xref: UMLS:CN227591 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000698

[Term]
id: MONDO:0019225
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