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Summary Literature (0)
DOID:0070463 - mitochondrial complex V (ATP synthase) deficiency nuclear type 5

Disease Ontology Definition:A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3.

Synonyms: MC5DN5

Xenbase Genes : atp5f1d



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

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