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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 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000708 | Atypical behavior |
| HP:0000736 | Short attention span |
| HP:0000822 | Hypertension |
| HP:0000900 | Thickened ribs |
| HP:0001085 | Papilledema |
| HP:0001250 | Seizure |
| HP:0001263 | Global developmental delay |
| HP:0001268 | Mental deterioration |
| HP:0001273 | Abnormal corpus callosum morphology |
| HP:0001324 | Muscle weakness |
