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Summary Literature (0)
MIM:245348 - PYRUVATE DEHYDROGENASE E2 DEFICIENCY; PDHDD

Xenbase Genes: dlat

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009502 - pyruvate dehydrogenase E2 deficiency
MONDO:0019169 - pyruvate dehydrogenase deficiency

Disease Ontology (DO):
DOID:3649 - pyruvate decarboxylase deficiency