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Summary Literature (0)
MIM:608782 - PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD

Xenbase Genes: pdp1

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012120 - pyruvate dehydrogenase phosphatase deficiency
MONDO:0019169 - pyruvate dehydrogenase deficiency

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