Term Name: cytochrome-c oxidase deficiency disease
Synonyms: MITOCHONDRIAL COMPLEX IV DEFICIENCY
Definition: A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation.
Ontology: Human Disease [DOID:3762]   ( DOID:3762 )

Relationships
is a type of: mitochondrial metabolism disease
has subtype: COX deficiency, benign infantile mitochondrial myopathy COX deficiency, infantile mitochondrial myopathy French Canadian Leigh disease Leigh disease mitochondrial complex IV deficiency nuclear type 23