diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 39b81e0042..93209aea45 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -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"} @@ -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