galactosylceramidase

Preferred Label : galactosylceramidase;

Approved symbol HGNC : GALC;

Name synonyms HGNC : Krabbe disease;

Chromosome HGNC : 14q31.3;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000054983;

Details

Origin ID

HGNC:4115;

UMLS CUI

C1414946;

Automatic exact mappings (from CISMeF team)
- Galactocerebrosidase [NCIt concept]
- Galactosylceramidase [OMIM gene]
- Galactosylceramidase [LOINC component]
- Galactosylceramidase (substance) [SNOMED CT concept]
- Galactosylceramide beta-galactosidase deficiency (disorder) [SNOMED CT concept]
- Krabbe Disease [NCIt concept]
- Krabbe disease [OMIM Phenotype]
- Krabbe disease [ICD-11 Subcategory]
- Krabbe disease [PASCAL descriptor]
- Krabbe disease [ORDO Disease]
- Krabbe disease [LOINC component]
- Krabbe disease [DO Concept]
- Krabbe's disease [MedDRA Preferred Term]
- galactosylceramidase [ORDO Gene]
- galactosylceramidase [SNOMED Notion]
- galactosylceramidase [MeSH concept]
- galactosylceramidase [MeSH Descriptor]
- leukodystrophy, globoid cell [MeSH Descriptor]
NCIt concept
- GALC Gene [NCIt concept]
OMIM gene
- Galactosylceramidase [OMIM gene]
Orphanet gene
- galactosylceramidase [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- GALC Gene [NCIt concept]
- GALC gene [LOINC component]
- Galactosylceramidase [OMIM gene]

Keyword's position in hierarchy(ies) :

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