Visualize Submit Comment
Metadata
ID DOID:0061207
Name maple syrup urine disease type II
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/
Xrefs

MIM:620699

Parent Relationships

is_a maple syrup urine disease

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

Add an item to the term tracker