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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:0000639 | Nystagmus |
| HP:0000647 | Sclerocornea |
| HP:0000648 | Optic atrophy |
| HP:0000682 | Abnormal dental enamel morphology |
| HP:0000717 | Autism |
| HP:0000772 | Abnormal rib morphology |
| HP:0000776 | Congenital diaphragmatic hernia |
| HP:0000965 | Cutis marmorata |
| HP:0000992 | Cutaneous photosensitivity |
| HP:0000996 | Facial capillary hemangioma |
