Glycogen Storage Disease Ic
Disease ID: disease_node_20391
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:232240 |
|---|---|
| Subclassof | DOID_0081329, DOID_0050737 |
| Data Source | DOID |
| Doid Label | glycogen storage disease Ic |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20391 |
| Doid Id | DOID_0081331 |
| Label | Glycogen Storage Disease Ic |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Glycogen Storage Disease Type I(ID:disease_node_3508) (Disease)