Retinoid isomerohydrolase rpe65

Preferred Label : Retinoid isomerohydrolase rpe65;

Symbol : RPE65;

CISMeF acronym : RPE65;

Type : Gene;

Ensembl ID : ENSG00000116745;

Prefixed ID : *180069;

Details

Origin ID

180069;

UMLS CUI

C1419622;

Automatic exact mappings (from CISMeF team)
- retinoid isomerohydrolase RPE65 [ORDO Gene]
- retinoid isomerohydrolase RPE65 [HGNC gene]
HGNC gene
- retinoid isomerohydrolase RPE65 [HGNC gene]
ORDO concept(s)
- retinoid isomerohydrolase RPE65 [ORDO Gene]
Phenotypes related
- Leber congenital amaurosis 2 [OMIM Phenotype]
- Retinitis pigmentosa 20 [OMIM Phenotype]
- Retinitis pigmentosa 87 with choroidal involvement [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- retinoid isomerohydrolase RPE65 [HGNC gene]

Keyword's position in hierarchy(ies) :

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