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Summary Literature (0)
MIM:614053 - MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; MC5DN3


Xenbase Genes: atp5f1e

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013547 - mitochondrial complex V (ATP synthase) deficiency nuclear type 3
MONDO:0014471 - mitochondrial proton-transporting ATP synthase complex deficiency

Disease Ontology (DO):
DOID:0060332 - mitochondrial complex V (ATP synthase) deficiency nuclear type 3