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:896
|
metal metabolism disorder
|
An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. |
DOID:4184
|
pseudohypoparathyroidism
|
A metal metabolism disorder that is characterized by end-organ resistance to parathyroid hormone and/or a constellation of symptoms collectively termed Albright’s hereditary osteodystrophy, which include shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, and rounded face. |
DOID:4183
|
pseudopseudohypoparathyroidism
|
A pseudohypoparathyroidism characterized by a lack of resistance to parathyroid hormone or other hormones along with the constellation of clinical features referred to as Albright hereditary osteodystrophy and that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the paternal allele. This results in expression of the Gs-alpha protein only from the maternal allele. |