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GlyTouCan
Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
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MIRAGE
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
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000097 | Focal segmental glomerulosclerosis |
| HP:0000295 | Doll-like facies |
| HP:0000660 | Lipemia retinalis |
| HP:0000991 | Xanthomatosis |
| HP:0001744 | Splenomegaly |
| HP:0001875 | Neutropenia |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003593 | Infantile onset |
| HP:0012213 | Decreased glomerular filtration rate |
| HP:0100732 | Pancreatic fibrosis |
