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Summary Literature (0)
DOID:0080359 - mitochondrial complex IV deficiency nuclear type 9

Disease Ontology Definition:A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11.

Synonyms: fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3, MC4DN9

Xenbase Genes : coa5



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), COX deficiency, infantile mitochondrial myopathy (is_a)