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: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:0050735 | X-linked monogenic disease | A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. |
| DOID:0080012 | X-linked recessive disease | A X-linked monogenic disease that has_material_basis_in recessive inheritance. |
| 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:0050594 | glycogen storage disease IX | A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity. |
| DOID:0111042 | glycogen storage disease IXa | A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080012 | DOID:0111042 |
| is_a | DOID:0050594 | DOID:0111042 |
| is_a | DOID:630 | DOID:0111042 |
| is_a | DOID:0050177 | DOID:0111042 |
| is_a | DOID:2747 | DOID:0111042 |
| is_a | DOID:2978 | DOID:0111042 |
| is_a | DOID:655 | DOID:0111042 |
| is_a | DOID:0050735 | DOID:0111042 |
| is_a | DOID:4 | DOID:0111042 |
| is_a | DOID:0050728 | DOID:0111042 |
| is_a | DOID:0014667 | DOID:0111042 |
