| 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 ) |