|
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:0050177
|
monogenic disease
|
A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |
|
DOID:630
|
genetic disease
|
A disease that has_material_basis_in genetic variations in the human genome. |
|
DOID:0050739
|
autosomal genetic disease
|
A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. |
|
DOID:0050737
|
autosomal recessive disease
|
An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
|
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:2978
|
carbohydrate metabolic disorder
|
An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. |
|
DOID:4194
|
glucose metabolism disease
|
A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range. |
|
DOID:13317
|
hyperinsulinemic hypoglycemia
|
A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. |
|
DOID:9993
|
hypoglycemia
|
A glucose metabolism disease that is characterized by abnormally low levels of blood glucose. |
|
DOID:0070215
|
familial hyperinsulinemic hypoglycemia 4
|
A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25. |
