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Metadata
ID	DOID:0061206
Name	maple syrup urine disease type IB
Definition	A maple syrup urine disease that is characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine and that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHB gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 6q14. https://pubmed.ncbi.nlm.nih.gov/7883996/
Xrefs	MIM:620698
Parent Relationships	is_a maple syrup urine disease is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance