Search Ontology:
Human Disease
maple syrup urine disease type IA
- Term ID
- DOID:0061203
- Synonyms
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- Definition
- A maple syrup urine disease characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHA gene, which encodes the E1-alpha subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/7182976/
- References
- Ontology
- Human Disease ( DOID:0061203 )
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Genes Involved
Zebrafish Models