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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:0000431 | Wide nasal bridge |
| HP:0000445 | Wide nose |
| HP:0000488 | Retinopathy |
| HP:0000493 | Abnormal foveal morphology |
| HP:0000505 | Visual impairment |
| HP:0000553 | Abnormal uvea morphology |
| HP:0000648 | Optic atrophy |
| HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude |
| HP:0000662 | Nyctalopia |
| HP:0000707 | Abnormality of the nervous system |
