Term Name: maple syrup urine disease type II
Synonyms:
Definition: A maple syrup urine disease that has_material_basis_in homozygous or compound heterozygous mutation in the DBT gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 1p21.
Ontology: Human Disease [DOID:0061207]   ( DOID:0061207 )

Relationships
is a type of: autosomal recessive disease maple syrup urine disease