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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:0001638 | Cardiomyopathy |
| HP:0001654 | Abnormal heart valve morphology |
| HP:0001762 | Talipes equinovarus |
| HP:0002159 | Heparan sulfate excretion in urine |
| HP:0002180 | Neurodegeneration |
| HP:0002208 | Coarse hair |
| HP:0002240 | Hepatomegaly |
| HP:0002465 | Poor speech |
| HP:0002680 | J-shaped sella turcica |
| HP:0002788 | Recurrent upper respiratory tract infections |
