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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](img/icons/info1.png)
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)