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Disease Ontology Browser
mitochondrial complex I deficiency (DOID:0060536)
Synonyms: isolated mitochondrial respiratory chain complex I deficiency; isolated NADH-coenzyme Q reductase deficiency; isolated NADH-CoQ reductase deficiency; isolated NADH-ubiquinone reductase deficiency
Alt IDs: OMIM:252010, MESH:C537475, ORDO:2609, UMLS_CUI:C2936907
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.

Disease References using Mouse Models (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/12/2017
MGI 6.10
The Jackson Laboratory