| Metadata | |
|---|---|
| ID | DOID:0061207 |
| Name | maple syrup urine disease type II |
| 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. https://pubmed.ncbi.nlm.nih.gov/17922217/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |