cytochrome P450 family 27 subfamily A member 1

Preferred Label : cytochrome P450 family 27 subfamily A member 1;

Approved symbol HGNC : CYP27A1;

Name synonyms HGNC : cerebrotendinous xanthomatosis;

Alias symbols HGNC : CTX; CP27;

Chromosome HGNC : 2q35;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000135929;

Details

Origin ID

HGNC:2605;

UMLS CUI

C1413864;

Automatic exact mappings (from CISMeF team)
- Cerebrotendinous Xanthomatosis [NCIt concept]
- Cerebrotendinous xanthomatosis [OMIM Phenotype]
- Cerebrotendinous xanthomatosis [ORDO Disease]
- Cerebrotendinous xanthomatosis [PASCAL descriptor]
- Cerebrotendinous xanthomatosis [ICD-11 More detail]
- Cholestanol storage disease (disorder) [SNOMED CT concept]
- Cytochrome p450, subfamily xxviia, polypeptide 1 [OMIM gene]
- cerebrotendinous xanthomatosis [Radlex concept]
- cerebrotendinous xanthomatosis [DO Concept]
- cytochrome P450 family 27 subfamily A member 1 [ORDO Gene]
- xanthomatosis, cerebrotendinous [MeSH Descriptor]
- xanthomatosis, cerebrotendinous [MeSH concept]
NCIt concept
- CYP27A1 Gene [NCIt concept]
OMIM gene
- Cytochrome p450, subfamily xxviia, polypeptide 1 [OMIM gene]
Orphanet gene
- cytochrome P450 family 27 subfamily A member 1 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CYP27A1 Gene [NCIt concept]
- Cytochrome p450, subfamily xxviia, polypeptide 1 [OMIM gene]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients