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DOID:0070464 - mitochondrial complex V (ATP synthase) deficiency nuclear type 7
Disease Ontology Definition:A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11.
Synonyms: MC5DN7,
Xenbase Genes :
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)