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:0008056 | Aplasia/Hypoplasia affecting the eye |
| HP:0008665 | Clitoral hypertrophy |
| HP:0008678 | Renal hypoplasia/aplasia |
| HP:0008736 | Hypoplasia of penis |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0008905 | Rhizomelia |
| HP:0009465 | Ulnar deviation of finger |
| HP:0009623 | Proximal placement of thumb |
| HP:0009804 | Tooth agenesis |
| HP:0010297 | Bifid tongue |
