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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:0001679 | Abnormal aortic morphology |
| HP:0001702 | Abnormal tricuspid valve morphology |
| HP:0001744 | Splenomegaly |
| HP:0002028 | Chronic diarrhea |
| HP:0002091 | Restrictive ventilatory defect |
| HP:0002159 | Heparan sulfate excretion in urine |
| HP:0002176 | Spinal cord compression |
| HP:0002360 | Sleep abnormality |
| HP:0002376 | Developmental regression |
| HP:0002781 | Upper airway obstruction |
