From bd3fd19eeca047ed945dbd6390f9d2e7ebc787af Mon Sep 17 00:00:00 2001 From: Sabrina Toro Date: Thu, 14 Nov 2024 19:22:52 -0800 Subject: [PATCH] synonym for Krabbe disease Closes #8028 --- src/ontology/mondo-edit.obo | 2 ++ 1 file changed, 2 insertions(+) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 0b38dae4e..3a4d2bcd6 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -204314,6 +204314,7 @@ synonym: "galactosylceramidase deficiency" EXACT [Orphanet:487] synonym: "galactosylceramide Beta-galactosidase deficiency" RELATED [OMIM:245200] synonym: "galactosylceramide lipidosis" EXACT [NCIT:C61254] synonym: "GALC deficiency" EXACT [Orphanet:487] +synonym: "GALC enzyme deficiency" EXACT [PMID:32965986] synonym: "GLD" RELATED ABBREVIATION [GARD:0006844] synonym: "globoid cell leukodystrophy" EXACT [DOID:10587, OMIM:245200, Orphanet:487, PMID:14572137] synonym: "globoid cell leukoencephalopathy" EXACT [DOID:10587, OMIM:245200] @@ -204350,6 +204351,7 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond relationship: disease_has_basis_in_accumulation_of CHEBI:16874 {source="PMID:14572137"} ! psychosine relationship: disease_has_basis_in_disruption_of GO:0004336 {source="PMID:14572137", source="https://www.researchgate.net/figure/Pathogenic-cascade-of-Krabbe-disease-Adapted-from-Suzuki-2003-NOTE-Appearance-of_fig1_251856987"} ! galactosylceramidase activity relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4115 {source="MONDO:mim2gene_medgen"} ! GALC +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8028" xsd:anyURI [Term] id: MONDO:0009500