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synonym for Krabbe disease
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Closes #8028
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sabrinatoro committed Nov 15, 2024
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Expand Up @@ -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]
Expand Down Expand Up @@ -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
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