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Repository for lectin-assisted multimodality data
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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 |
|---|---|---|
| P35475 | Alpha-L-iduronidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000943 | Dysostosis multiplex |
| HP:0000303 | Mandibular prognathia |
| HP:0002341 | Cervical cord compression |
| HP:0002870 | Obstructive sleep apnea |
| HP:0000445 | Wide nose |
| HP:0001650 | Aortic valve stenosis |
| HP:0000283 | Broad face |
| HP:0000546 | Retinal degeneration |
| HP:0008155 | Mucopolysacchariduria |
| HP:0012471 | Thick vermilion border |
