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Summary Literature (0)
MIM:248600 - MAPLE SYRUP URINE DISEASE; MSUD

Xenbase Genes: dbt, bckdha, bckdhb, dld

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009563 - maple syrup urine disease
MONDO:0017051 - classic maple syrup urine disease
MONDO:0017052 - intermediate maple syrup urine disease
MONDO:0017053 - intermittent maple syrup urine disease
MONDO:0017054 - thiamine-responsive maple syrup urine disease

Disease Ontology (DO):
DOID:9269 - maple syrup urine disease