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:0005709 | 2-3 toe cutaneous syndactyly |
| HP:0006979 | Sleep-wake cycle disturbance |
| HP:0007099 | Chiari type I malformation |
| HP:0007165 | Periventricular heterotopia |
| HP:0007333 | Hypoplasia of the frontal lobes |
| HP:0007537 | Severe photosensitivity |
| HP:0009778 | Short thumb |
| HP:0010655 | Epiphyseal stippling |
| HP:0011968 | Feeding difficulties |
| HP:0100702 | Arachnoid cyst |
