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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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Fanconi-Bickel syndrome
Summary
- Synonym
-
- FBS
- glycogen storage disease XI
- glycogenosis type XI
- glycogenosis, Fanconi type
- Definition
- A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2.
- Super Class
- autosomal recessive disease glucose metabolism disease
External Links
- Disease Ontology
- DOID:0070562
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11168 | Solute carrier family 2, facilitated glucose transporter member 2 |
