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Summary Literature (0)
MIM:312170 - PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD

Xenbase Genes: pdha1

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010717 - pyruvate dehydrogenase E1-alpha deficiency
MONDO:0019169 - pyruvate dehydrogenase deficiency

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