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Summary Literature (0)
DOID:0060331 - mitochondrial complex V (ATP synthase) deficiency nuclear type 2

Disease Ontology Definition:A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21.

Synonyms: MC5DN2, neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency,

Xenbase Genes : tmem70

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013546 - mitochondrial complex V (ATP synthase) deficiency nuclear type 2


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): genetic disease (is_a), mitochondrial complex V (ATP synthase) deficiency (is_a)