12 Parents
| Identifier | Name | Description |
|---|---|---|
| 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: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:0050736 | autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
| 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: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:0070214 | familial hyperinsulinemic hypoglycemia 7 | A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. |
| 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. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0070214 |
| is_a | DOID:13317 | DOID:0070214 |
| is_a | DOID:630 | DOID:0070214 |
| is_a | DOID:9993 | DOID:0070214 |
| is_a | DOID:4194 | DOID:0070214 |
| is_a | DOID:0050177 | DOID:0070214 |
| is_a | DOID:2978 | DOID:0070214 |
| is_a | DOID:0014667 | DOID:0070214 |
| is_a | DOID:0050739 | DOID:0070214 |
| is_a | DOID:4 | DOID:0070214 |
| is_a | DOID:655 | DOID:0070214 |
