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Summary Literature (0)
MIM:614096 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8

Xenbase Genes: aars2

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013570 - combined oxidative phosphorylation defect type 8

Disease Ontology (DO):
DOID:0060286 - combined oxidative phosphorylation deficiency
DOID:0111479 - combined oxidative phosphorylation deficiency 8