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MIRAGE
mucopolysaccharidosis II
Summary
- Synonym
-
- Hunter syndrome
- Hunter's syndrome
- MPS II - Hunter syndrome
- Mucopolysaccharidosis, MPS-II
- deficiency of iduronate-2-sulphatase
- Definition
- A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
- Super Class
- mucopolysaccharidosis
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22304 | Iduronate 2-sulfatase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q08890 | Iduronate 2-sulfatase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002788 | Recurrent upper respiratory tract infections |
| HP:0003416 | Spinal canal stenosis |
| HP:0003468 | Abnormal vertebral morphology |
| HP:0004322 | Short stature |
| HP:0004950 | Peripheral arterial stenosis |
| HP:0005019 | Diaphyseal undertubulation |
| HP:0005216 | Impaired mastication |
| HP:0006482 | Abnormal dental morphology |
| HP:0007703 | Abnormality of retinal pigmentation |
| HP:0007957 | Corneal opacity |
