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Summary Literature (0)
MIM:611719 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5

Xenbase Genes: mrps22

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012718 - hypotonia with lactic acidemia and hyperammonemia

Disease Ontology (DO):
DOID:0060286 - combined oxidative phosphorylation deficiency
DOID:0111473 - combined oxidative phosphorylation deficiency 5