WormMine: DiseaseOntology DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy 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:3762	cytochrome-c oxidase deficiency disease	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.
DOID:700	mitochondrial metabolism disease	An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.
DOID:0081377	COX deficiency, benign infantile mitochondrial myopathy	A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.

Name	Type
Isolated cytochrome C oxidase deficiency	synonym

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