| Metadata | |
|---|---|
| ID | DOID:0061205 |
| Name | mild variant of maple syrup urine disease |
| Definition | A maple syrup urine disease characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth that has_material_basis_in homozygous mutation in the PPM1K gene on chromosome 4q22. https://pubmed.ncbi.nlm.nih.gov/23086801/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |