WormMine: DiseaseOntology DOID:0060536 mitochondrial complex I deficiency Disease Ontology

Name
Disease Ontology

Identifier	Name	Description
DOID:4	disease	A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:0014667	disease of metabolism	A disease that involving errors in metabolic processes of building or degradation of molecules.
DOID:630	genetic disease	A disease that has_material_basis_in genetic variations in the human genome.
DOID:655	inherited metabolic disorder	A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
DOID:700	mitochondrial metabolism disease	An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.
DOID:0060536	mitochondrial complex I deficiency	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.

Name	Type
isolated mitochondrial respiratory chain complex I deficiency	synonym
isolated NADH-coenzyme Q reductase deficiency	synonym
isolated NADH-CoQ reductase deficiency	synonym
isolated NADH-ubiquinone reductase deficiency	synonym

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