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Disease Ontology Browser
cytochrome-c oxidase deficiency disease (DOID:3762)
Alliance: disease page
Synonyms: MITOCHONDRIAL COMPLEX IV DEFICIENCY
Alt IDs: MESH:D030401, NCI:C98910, OMIM:PS220110, UMLS_CUI:C0268237
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.

Disease References using Mouse Models (14)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory