8 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: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:2978 | carbohydrate metabolic disorder | An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. |
| DOID:2747 | glycogen storage disease | A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. |
| DOID:0050728 | glycogen metabolism disorder | A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen. |
| DOID:0081329 | glycogen storage disease I | A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:2747 | DOID:0081329 |
| is_a | DOID:0050728 | DOID:0081329 |
| is_a | DOID:630 | DOID:0081329 |
| is_a | DOID:655 | DOID:0081329 |
| is_a | DOID:2978 | DOID:0081329 |
| is_a | DOID:0014667 | DOID:0081329 |
| is_a | DOID:4 | DOID:0081329 |
| is_a | DOID:0081329 | DOID:0081330 |
| is_a | DOID:0081329 | DOID:0081331 |
| is_a | DOID:0081329 | DOID:2749 |
