|
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 involves 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:0050713
|
COX deficiency, infantile mitochondrial myopathy
|
A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis. |
|
DOID:700
|
mitochondrial metabolism disease
|
An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. |
