mild variant of maple syrup urine disease Disease Ontology Browser

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Disease Ontology Browser

mild variant of maple syrup urine disease (DOID:0061205)
Alliance: disease page
Alt IDs: OMIM:615135
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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