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: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: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. |
| DOID:0081331 | glycogen storage disease Ic | A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0081329 | DOID:0081331 |
| is_a | DOID:0050737 | DOID:0081331 |
| is_a | DOID:2747 | DOID:0081331 |
| is_a | DOID:2978 | DOID:0081331 |
| is_a | DOID:655 | DOID:0081331 |
| is_a | DOID:630 | DOID:0081331 |
| is_a | DOID:4 | DOID:0081331 |
| is_a | DOID:0014667 | DOID:0081331 |
| is_a | DOID:0050739 | DOID:0081331 |
| is_a | DOID:0050728 | DOID:0081331 |
| is_a | DOID:0050177 | DOID:0081331 |
