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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:0001387 | Joint stiffness |
| HP:0012471 | Thick vermilion border |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0002313 | Spastic paraparesis |
| HP:0000232 | Everted lower lip vermilion |
| HP:0001744 | Splenomegaly |
| HP:0008155 | Mucopolysacchariduria |
| HP:0000924 | Abnormality of the skeletal system |
| HP:0000154 | Wide mouth |
| HP:0002240 | Hepatomegaly |
