mitochondrial complex V (ATP synthase) deficiency nuclear type 5

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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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: atp5f1d

Other Model Organisms: AGR, 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)