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Repository for lectin-assisted multimodality data
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MIRAGE
mucopolysaccharidosis type VII
Summary
- Synonym
-
- MPS VII - Sly syndrome
- 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 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P12265 | Beta-glucuronidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001387 | Joint stiffness |
| HP:0007957 | Corneal opacity |
| HP:0001789 | Hydrops fetalis |
| HP:0012115 | Hepatitis |
| HP:0002650 | Scoliosis |
| HP:0001252 | Hypotonia |
| HP:0008155 | Mucopolysacchariduria |
| HP:0001840 | Metatarsus adductus |
| HP:0012368 | Flat face |
| HP:0001537 | Umbilical hernia |
