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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:0100625 | Enlarged thorax |
| HP:0001744 | Splenomegaly |
| HP:0005019 | Diaphyseal undertubulation |
| HP:0000023 | Inguinal hernia |
| HP:0001789 | Hydrops fetalis |
| HP:0007957 | Corneal opacity |
| HP:0000470 | Short neck |
| HP:0012115 | Hepatitis |
| HP:0001387 | Joint stiffness |
| HP:0002650 | Scoliosis |
