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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:0010569 | Elevated circulating 7-dehydrocholesterol concentration |
| HP:0010880 | Increased nuchal translucency |
| HP:0011069 | Supernumerary tooth |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0100542 | Abnormal localization of kidney |
| HP:0100716 | Self-injurious behavior |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000046 | Small scrotum |
| HP:0000048 | Bifid scrotum |
| HP:0000054 | Micropenis |
