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Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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glycogen storage disease Ib
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.
- Super Class
- autosomal recessive disease glycogen storage disease I
External Links
- Disease Ontology
- DOID:0081330
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002659 | Increased susceptibility to fractures |
| HP:0002718 | Recurrent bacterial infections |
| HP:0003077 | Hyperlipidemia |
| HP:0003124 | Hypercholesterolemia |
| HP:0003128 | Lactic acidosis |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0004322 | Short stature |
| HP:0004387 | Enterocolitis |
| HP:0005576 | Tubulointerstitial fibrosis |
| HP:0006568 | Increased hepatic glycogen content |
