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Human Disease

cytochrome-c oxidase deficiency disease

Term ID
DOID:3762
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. (3)
References
Ontology
Human Disease   ( DOID:3762 )
Relationships
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Genes Involved
Zebrafish Models