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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:0002808 | Kyphosis |
| HP:0002857 | Genu valgum |
| HP:0002870 | Obstructive sleep apnea |
| HP:0003311 | Hypoplasia of the odontoid process |
| HP:0003375 | Narrow greater sciatic notch |
| HP:0003510 | Severe short stature |
| HP:0003541 | Urinary glycosaminoglycan excretion |
| HP:0003593 | Infantile onset |
| HP:0004322 | Short stature |
| HP:0004469 | Chronic bronchitis |
