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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:0002020 | Gastroesophageal reflux |
| HP:0002021 | Pyloric stenosis |
| HP:0002089 | Pulmonary hypoplasia |
| HP:0002101 | Abnormal lung lobation |
| HP:0002119 | Ventriculomegaly |
| HP:0002251 | Aganglionic megacolon |
| HP:0002360 | Sleep abnormality |
| HP:0002650 | Scoliosis |
| HP:0002719 | Recurrent infections |
| HP:0002777 | Tracheal stenosis |
