Glycogen Storage Disease Ib
Disease ID: disease_node_20392
Connections displayed (default: 10).
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| Dbxref | MIM:232220 |
|---|---|
| Subclassof | DOID_0081329, DOID_0050737 |
| Data Source | DOID |
| Doid Label | glycogen storage disease Ib |
| 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20392 |
| Doid Id | DOID_0081330 |
| Label | Glycogen Storage Disease Ib |
- Outgoing r'ship
SUBCLASS_OFto/from Glycogen Storage Disease Type I(ID:disease_node_3508) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)