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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000470 | Short neck |
| HP:0000508 | Ptosis |
| HP:0000684 | Delayed eruption of teeth |
| HP:0000687 | Widely spaced teeth |
| HP:0000943 | Dysostosis multiplex |
| HP:0000998 | Hypertrichosis |
| HP:0001171 | Split hand |
| HP:0001419 | X-linked recessive inheritance |
| HP:0001635 | Congestive heart failure |
| HP:0001761 | Pes cavus |
