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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Sly syndrome
Summary
- Synonym
-
- MPS VII - Sly syndrome
- beta-glucuronidase deficiency
- deficiency of beta-glucuronidase
- mucopolysaccharidosis VII
- Definition
- A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.
- Super Class
- mucopolysaccharidosis
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08236 | Beta-glucuronidase | |
| P35475 | Alpha-L-iduronidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003272 | Abnormal hip bone morphology |
| HP:0001537 | Umbilical hernia |
| HP:0012368 | Flat face |
| HP:0001004 | Lymphedema |
| HP:0008155 | Mucopolysacchariduria |
| HP:0001840 | Metatarsus adductus |
| HP:0000280 | Coarse facial features |
| HP:0002205 | Recurrent respiratory infections |
| HP:0010655 | Epiphyseal stippling |
| HP:0001252 | Hypotonia |
