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Echinobase
Summary Literature (0)
DOID:0060333 - mitochondrial complex V (ATP synthase) deficiency nuclear type 4

Disease Ontology Definition:A mitochondrial complex V (ATP synthase) deficiency that has material basis in mutation in the ATP5A1 gene on chromosome 18q.

Synonyms: MC5DN4,

Echinobase Genes : atp5f1a


OMIM:
MIM:615228 - mitochondrial complex v (atp synthase) deficiency, nuclear type 4; mc5dn4

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

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