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Summary Literature (0)
MIM:614932 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13

Xenbase Genes: pnpt1

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013977 - combined oxidative phosphorylation defect type 13

Disease Ontology (DO):
DOID:0060286 - combined oxidative phosphorylation deficiency
DOID:0111467 - combined oxidative phosphorylation deficiency 13