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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:0000767 | Pectus excavatum |
| HP:0000768 | Pectus carinatum |
| HP:0000926 | Platyspondyly |
| HP:0000943 | Dysostosis multiplex |
| HP:0001007 | Hirsutism |
| HP:0001270 | Motor delay |
| HP:0001371 | Flexion contracture |
| HP:0001376 | Limitation of joint mobility |
| HP:0001538 | Protuberant abdomen |
| HP:0001540 | Diastasis recti |
