retinoid isomerohydrolase RPE65

Preferred Label : retinoid isomerohydrolase RPE65;

Approved symbol HGNC : RPE65;

Name synonyms HGNC : BCO family; member 3; retinol isomerase; all-trans-retinyl-palmitate hydrolase;

Alias symbols HGNC : rd12; BCO3; LCA2;

Chromosome HGNC : 1p31.3;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000116745;

Détails

Origin ID

HGNC:10294;

UMLS CUI

C1419622;

Automatic exact mappings (from CISMeF team)
- All-trans-retinyl-palmitate hydrolase (substance) [SNOMED CT concept]
- Chemokine, cxc motif, ligand 3 [OMIM gene]
- Leber congenital amaurosis 2 [OMIM Phenotype]
- Retinoid isomerohydrolase rpe65 [OMIM gene]
- Retinol isomerase (substance) [SNOMED CT concept]
- retinoid isomerohydrolase [MeSH Supplementary Concept]
- retinoid isomerohydrolase [MeSH concept]
- retinoid isomerohydrolase RPE65 [ORDO Gene]
OMIM gene
- Retinoid isomerohydrolase rpe65 [OMIM gene]
Orphanet gene
- retinoid isomerohydrolase RPE65 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Retinoid isomerohydrolase rpe65 [OMIM gene]

Position du mot-clé dans l'(les) arborescence(s) :

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