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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:0000280 | Coarse facial features |
| HP:0001004 | Lymphedema |
| HP:0000023 | Inguinal hernia |
| HP:0001249 | Intellectual disability |
| HP:0000470 | Short neck |
| HP:0002103 | Abnormal pleura morphology |
| HP:0008430 | Anterior beaking of lumbar vertebrae |
| HP:0001541 | Ascites |
| HP:0100026 | Arteriovenous malformation |
| HP:0004607 | Anterior beaking of lower thoracic vertebrae |
