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add synonym to 'congenital disorder of deglycosylation 1' #8573

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merged 2 commits into from
Jan 15, 2025
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add synonym to 'congenital disorder of deglycosylation 1' #8573

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26b5600
add synonym to 'congenital disorder of deglycosylation 1'
nicolevasilevsky Jan 14, 2025
ac3298f
fix ticket URL
twhetzel Jan 15, 2025
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2 changes: 2 additions & 0 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -548488,6 +548488,7 @@ synonym: "NGLY1 Deficiency" EXACT [NORD:1919, Orphanet:404454]
synonym: "NGLY1 deficiency" EXACT [Orphanet:404454]
synonym: "NGLY1-CDDG" EXACT ABBREVIATION [DOID:0060728, Orphanet:404454]
synonym: "NGLY1-deficiency" EXACT CLINGEN_LABEL [DOID:0060728]
synonym: "NGLY1-related congenital disorder of deglycosylation" EXACT [PMID:33417889]
xref: DOID:0060728 {source="MONDO:equivalentTo"}
xref: GARD:12315 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:404454/attributed", source="Orphanet:404454/ntbt", source="Orphanet:404454", source="DOID:0060728"}
Expand All @@ -548508,6 +548509,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/
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/4864" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8571" xsd:anyURI

[Term]
id: MONDO:0800045
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