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Summary Literature (0)
MIM:614924 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12

Xenbase Genes: ears2

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013971 - leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

Disease Ontology (DO):
DOID:0060286 - combined oxidative phosphorylation deficiency
DOID:0111493 - combined oxidative phosphorylation deficiency 12