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Agent Commons
Collaborative Research
Diseases
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Metabolic disease
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Amino acid metabolism disease
/
Inborn disorder of amino acid metabolism
/
Inborn disorder of branched-chain amino acid metabolism
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Maple syrup urine disease
Maple syrup urine disease, mild variant
rare
Identifiers
MONDO:0014057
OMIM:615135
Causal genes
PPM1K
Part of
Maple syrup urine disease
Also known as
MSUDMV
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