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mucopolysaccharidosis III
Summary
- Synonym
-
- Mucopolysaccharidosis, MPS-III
- N-sulphoglucosamine sulphohydrolase deficiency
- Sanfilippo's syndrome
- heparan sulfate sulfatase deficiency
- Definition
- A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
- Super Class
- mucopolysaccharidosis
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000369 | Low-set ears |
| HP:0000403 | Recurrent otitis media |
| HP:0000463 | Anteverted nares |
| HP:0000470 | Short neck |
| HP:0000490 | Deeply set eye |
| HP:0000505 | Visual impairment |
| HP:0000574 | Thick eyebrow |
| HP:0000662 | Nyctalopia |
| HP:0000664 | Synophrys |
| HP:0000711 | Restlessness |
