EBP cholestenol delta-isomerase

Preferred Label : EBP cholestenol delta-isomerase;

Approved symbol HGNC : EBP;

Name synonyms HGNC : sterol 8-isomerase; 3-beta-hydroxysteroid-delta-8; X-linked dominant (Happle syndrome); delta-7-isomerase; Chondrodysplasia punctata-2;

Alias symbols HGNC : CPXD; CHO2; CPX;

Chromosome HGNC : Xp11.23;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000147155;

Details

Origin ID

HGNC:3133;

UMLS CUI

C1414236;

Automatic exact mappings (from CISMeF team)
- 3-Beta-Hydroxysteroid-Delta(8),Delta(7)-Isomerase [NCIt concept]
- Cleft palate with or without ankyloglossia, X-linked [OMIM Phenotype]
- delta(8)-delta(7)-sterol isomerase [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- EBP Gene [NCIt concept]
- EBP cholestenol delta-isomerase [ORDO Gene]
- Emopamil-binding protein [OMIM gene]
NCIt concept
- EBP Gene [NCIt concept]
OMIM gene
- Emopamil-binding protein [OMIM gene]
Orphanet gene
- EBP cholestenol delta-isomerase [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- EBP Gene [NCIt concept]
- Emopamil-binding protein [OMIM gene]

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