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glycogen storage disease Ic
Summary
- Definition
- 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.
- Super Class
- autosomal recessive disease glycogen storage disease I
External Links
- Disease Ontology
- DOID:0081331
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0010974 | Abnormal myeloid leukocyte morphology |
| HP:0011890 | Prolonged bleeding following procedure |
| HP:0012028 | Hepatocellular adenoma |
| HP:0012146 | Abnormality of von Willebrand factor |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0100279 | Ulcerative colitis |
| HP:0100512 | Decreased circulating vitamin D concentration |
| HP:0100543 | Cognitive impairment |
| HP:0100646 | Thyroiditis |
| HP:0002092 | Pulmonary arterial hypertension |
