Search Ontology:
Human Disease
maple syrup urine disease type II
- Term ID
- DOID:0061207
- 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. https://pubmed.ncbi.nlm.nih.gov/17922217/
- References
- Ontology
- Human Disease ( DOID:0061207 )
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Genes Involved
Zebrafish Models