|
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:3211
|
lysosomal storage disease
|
An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. |
|
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:12798
|
mucopolysaccharidosis
|
A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine. |
|
DOID:12804
|
mucopolysaccharidosis IV
|
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. |
