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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:0001376 | Limitation of joint mobility |
| HP:0001385 | Hip dysplasia |
| HP:0001433 | Hepatosplenomegaly |
| HP:0001510 | Growth delay |
| HP:0001537 | Umbilical hernia |
| HP:0001609 | Hoarse voice |
| HP:0001633 | Abnormal mitral valve morphology |
| HP:0001638 | Cardiomyopathy |
| HP:0001641 | Abnormal pulmonary valve morphology |
| HP:0001654 | Abnormal heart valve morphology |
