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Metadata
ID DOID:0061205
Name mild variant of maple syrup urine disease
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/
Xrefs

MIM:615135

Parent Relationships

is_a maple syrup urine disease

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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