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| Term | cytochrome-c oxidase deficiency disease | ID (Ontology) | DOID:3762 (Human Disease) | |||||||||||||||||||||||
| 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. | |||||||||||||||||||||||||
| Also Known As | "MITOCHONDRIAL COMPLEX IV DEFICIENCY" | |||||||||||||||||||||||||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Is a | mitochondrial metabolism disease | ||
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External Crossreferences & Linkouts
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GARD:48 MESH:D030401 MIM:PS220110 NCI:C98910 SNOMEDCT_US_2023_03_01:237991006 UMLS_CUI:C0268237 |
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