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Disease association ontology term - MONDO:0017052 - intermediate maple syrup urine disease

Term summary

ID
MONDO:0017052
Name
intermediate maple syrup urine disease
Ontology or CV name
Disease association
Definition
Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.

Parents

Annotation

Disease association

MONDO:0017052 - intermediate maple syrup urine disease

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