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:0001156 | Brachydactyly |
| HP:0001162 | Postaxial hand polydactyly |
| HP:0001171 | Split hand |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001262 | Excessive daytime somnolence |
| HP:0001263 | Global developmental delay |
| HP:0001276 | Hypertonia |
| HP:0001360 | Holoprosencephaly |
