Search Ontology:
Human Disease
mild variant of maple syrup urine disease
- Term ID
- DOID:0061205
- Synonyms
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- 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/
- References
- Ontology
- Human Disease ( DOID:0061205 )
Other Pages
Genes Involved
Zebrafish Models