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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Scheie syndrome
Summary
- Synonym
-
- mucopolysaccharidosis type 1S
- mucopolysaccharidosis type IS
- mucopolysaccharidosis type V
- Definition
- A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan.
- Super Class
- mucopolysaccharidosis I
External Links
- Disease Ontology
- DOID:0060222
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04040 | Catalase | |
| P15848 | Arylsulfatase B | |
| P19526 | Galactoside alpha-(1,2)-fucosyltransferase 1 | |
| P35475 | Alpha-L-iduronidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000280 | Coarse facial features |
| HP:0012384 | Rhinitis |
| HP:0001376 | Limitation of joint mobility |
| HP:0100021 | Cerebral palsy |
| HP:0001659 | Aortic regurgitation |
| HP:0000501 | Glaucoma |
| HP:0007957 | Corneal opacity |
| HP:0000546 | Retinal degeneration |
| HP:0002857 | Genu valgum |
| HP:0000303 | Mandibular prognathia |
