9 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:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| 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:0090101 | lethal congenital glycogen storage disease of heart | A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36. |
8 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080015 | DOID:0090101 |
| is_a | DOID:2747 | DOID:0090101 |
| is_a | DOID:0050728 | DOID:0090101 |
| is_a | DOID:630 | DOID:0090101 |
| is_a | DOID:4 | DOID:0090101 |
| is_a | DOID:0014667 | DOID:0090101 |
| is_a | DOID:655 | DOID:0090101 |
| is_a | DOID:2978 | DOID:0090101 |
