|
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:13268
|
porphyria
|
An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. |
|
DOID:3133
|
acute porphyria
|
A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis. |
|
DOID:5230
|
hepatoerythropoietic porphyria
|
|
