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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:0001387 | Joint stiffness |
| HP:0002240 | Hepatomegaly |
| HP:0000470 | Short neck |
| HP:0001761 | Pes cavus |
| HP:0000293 | Full cheeks |
| HP:0001718 | Mitral stenosis |
| HP:0002857 | Genu valgum |
| HP:0001249 | Intellectual disability |
| HP:0003302 | Spondylolisthesis |
| HP:0000007 | Autosomal recessive inheritance |
