Branched-chain keto acid dehydrogenase e1, beta polypeptide

Preferred Label : Branched-chain keto acid dehydrogenase e1, beta polypeptide;

Symbol : BCKDHB;

CISMeF acronym : BCKDHB;

Type : Gene;

Alternative titles and symbols : E1B;

Ensembl ID : ENSG00000083123;

Prefixed ID : *248611;

Details

Origin ID

248611;

UMLS CUI

C1412760;

Automatic exact mappings (from CISMeF team)
- BCKDHB gene [LOINC component]
- Oncogene E1B [NCIt concept]
- branched chain keto acid dehydrogenase E1 subunit beta [HGNC gene]
- branched chain keto acid dehydrogenase E1 subunit beta [ORDO Gene]
HGNC gene
- branched chain keto acid dehydrogenase E1 subunit beta [HGNC gene]
ORDO concept(s)
- branched chain keto acid dehydrogenase E1 subunit beta [ORDO Gene]
Phenotypes related
- Maple syrup urine disease, type ib [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- BCKDHB gene [LOINC component]
- branched chain keto acid dehydrogenase E1 subunit beta [HGNC gene]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients