branched chain keto acid dehydrogenase E1 subunit beta

Preferred Label : branched chain keto acid dehydrogenase E1 subunit beta;

Approved symbol HGNC : BCKDHB;

Name synonyms HGNC : maple syrup urine disease; mitochondrial; 2-oxoisovalerate dehydrogenase subunit beta;

Alias symbols HGNC : OVD1B;

Chromosome HGNC : 6q14.1;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000083123;

Details

Origin ID

HGNC:987;

UMLS CUI

C1412760;

Automatic exact mappings (from CISMeF team)
- Branched-chain keto acid dehydrogenase e1, beta polypeptide [OMIM gene]
- Maple Syrup Urine Disease [NCIt concept]
- Maple syrup disease [MedDRA Preferred Term]
- Maple syrup urine disease [MedDRA LLT]
- Maple syrup urine disease [LOINC component]
- Maple syrup urine disease [ORDO Disease]
- Maple syrup urine disease [OMIM phenotypic series]
- Maple syrup urine disease (disorder) [SNOMED CT concept]
- Maple syrup urine disease, type ia [OMIM Phenotype]
- Mitochondrial inheritance [HPO term]
- Mitochondrion [NCIt concept]
- Muscular Dystrophy Secondary to Mitochondrial Disorder [NCIt concept]
- NADH:ubiquinone oxidoreductase core subunit S3 [ORDO Gene]
- branched chain keto acid dehydrogenase E1 subunit alpha [ORDO Gene]
- branched chain keto acid dehydrogenase E1 subunit beta [ORDO Gene]
- genetic brain disorders [MedlinePlus Topic]
- leucinosis [Artificial nutrition thesaurus concept]
- maple syrup urine disease [DO Concept]
- maple syrup urine disease [MeSH Descriptor]
- maple syrup urine disease [MeSH concept]
OMIM gene
- Branched-chain keto acid dehydrogenase e1, beta polypeptide [OMIM gene]
Orphanet gene
- branched chain keto acid dehydrogenase E1 subunit beta [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- BCKDHB gene [LOINC component]
- Branched-chain keto acid dehydrogenase e1, beta polypeptide [OMIM gene]

Keyword's position in hierarchy(ies) :

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