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| Term | mitochondrial complex I deficiency | ID (Ontology) | DOID:0060536 (Human Disease) |
| Definition | A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. | ||
| Also Known As | "isolated mitochondrial respiratory chain complex I deficiency" ; "isolated NADH-coenzyme Q reductase deficiency" ; "isolated NADH-CoQ reductase deficiency" (for all, see Synonyms field below) | ||
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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:3908 MESH:C537475 ORDO:2609 SNOMEDCT_US_2023_03_01:237988006 UMLS_CUI:C1838979 |
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