Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
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:0000283 | Broad face |
| HP:0001761 | Pes cavus |
| HP:0000470 | Short neck |
| HP:0003302 | Spondylolisthesis |
| HP:0001249 | Intellectual disability |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002341 | Cervical cord compression |
| HP:0005280 | Depressed nasal bridge |
| HP:0000293 | Full cheeks |
| HP:0001650 | Aortic valve stenosis |
