mitochondrial complex IV deficiency nuclear type 9 Disease Ontology Browser

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mitochondrial complex IV deficiency nuclear type 9 (DOID:0080359)
Alliance: disease page
Synonyms: fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3; MC4DN9
Alt IDs: OMIM:616500, UMLS_CUI:C4225154
Definition: A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11.

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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