Retinitis pigmentosa gtpase regulator

Preferred Label : Retinitis pigmentosa gtpase regulator;

Symbol : RPGR;

CISMeF acronym : RPGR;

Type : Gene;

Ensembl ID : ENSG00000156313;

Prefixed ID : *312610;

Détails

Origin ID

312610;

UMLS CUI

C1419623;

Automatic exact mappings (from CISMeF team)
- RPGR gene [LOINC component]
- retinitis pigmentosa GTPase regulator [ORDO Gene]
- retinitis pigmentosa GTPase regulator [HGNC gene]
HGNC gene
- retinitis pigmentosa GTPase regulator [HGNC gene]
ORDO concept(s)
- retinitis pigmentosa GTPase regulator [ORDO Gene]
Phenotypes related
- Cone-rod dystrophy, X-linked, 1 [OMIM Phenotype]
- Macular degeneration, atrophic, X-linked [OMIM Phenotype]
- Retinitis pigmentosa 3 [OMIM Phenotype]
- Retinitis pigmentosa, X-linked, and sinorespiratory infections with or without deafness [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- RPGR gene [LOINC component]
- retinitis pigmentosa GTPase regulator [HGNC gene]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients