Maple syrup urine disease, type ib

Preferred Label : Maple syrup urine disease, type ib;

Symbol : MSUD1B;

Type : Phenotype, molecular basis known;

Prefixed ID : #620698;

Details

Origin ID

620698;

UMLS CUI

C2930990;

Genes related to phenotype
- Branched-chain keto acid dehydrogenase e1, beta polypeptide [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Maple syrup urine disease, type 1B [MeSH concept]
- maple syrup urine disease, type 1B [MeSH Supplementary Concept]

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