mitochondrial complex IV deficiency nuclear type 23 Disease Ontology Browser

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mitochondrial complex IV deficiency nuclear type 23 (DOID:0070485)
Alliance: disease page
Synonyms: MC4DN23
Alt IDs: OMIM:620275, UMLS_CUI:C5830322
Definition: A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22.

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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