bestrophin 1 - CISMeF

Preferred Label : bestrophin 1;

Approved symbol HGNC : BEST1;

Name synonyms HGNC : Best disease;

Alias symbols HGNC : BMD; BEST; RP50;

Chromosome HGNC : 11q12.3;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000167995;

Détails

Origin ID

HGNC:12703;

UMLS CUI

C1826421;

Automatic exact mappings (from CISMeF team)
- Best disease [ICD-11 More detail]
- Best vitelliform macular dystrophy [ORDO Disease]
- Best vitelliform macular dystrophy (disorder) [SNOMED CT concept]
- Best's disease [MedDRA LLT]
- Bestrophin 1 [OMIM gene]
- Bestrophins [MeSH Descriptor]
- Muscular dystrophy, becker type [OMIM Phenotype]
- Retinitis pigmentosa 50 [OMIM Phenotype]
- bestrophin 1 [ORDO Gene]
- vitelliform macular dystrophy [DO Concept]
- vitelliform macular dystrophy [MeSH concept]
- vitelliform macular dystrophy [MeSH Descriptor]
NCIt concept
- BEST1 Gene [NCIt concept]
OMIM gene
- Bestrophin 1 [OMIM gene]
Orphanet gene
- bestrophin 1 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- BEST1 Gene [NCIt concept]
- Bestrophin 1 [OMIM gene]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients