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
Smith-Lemli-Opitz syndrome
Summary
- Synonym
-
- Rutledge lethal multiple congenital anomaly syndrome
- Smith-Opitz-Inborn syndrome
- Super Class
- lipid metabolism disorder
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08842 | Steryl-sulfatase | |
| P37268 | Squalene synthase | |
| Q9UBM7 | 7-dehydrocholesterol reductase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001397 | Hepatic steatosis |
| HP:0001508 | Failure to thrive |
| HP:0001522 | Death in infancy |
| HP:0001558 | Decreased fetal movement |
| HP:0001622 | Premature birth |
| HP:0001623 | Breech presentation |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0001663 | Ventricular fibrillation |
| HP:0001680 | Coarctation of aorta |
| HP:0001744 | Splenomegaly |
