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Disease Smith-Lemli-Opitz Syndrome

Name Smith-Lemli-Opitz Syndrome
Synonyms 7-Dehydrocholesterol Reductase Deficiencies | 7-Dehydrocholesterol Reductase Deficiency | Acrodysgenital Syndrome, Lethal | Acrodysgenital Syndromes, Lethal | Deficiencies, 7-Dehydrocholesterol Reductase | Deficiency, 7-Dehydrocholesterol Reductase | Hyperotosis Corticalis Generalisata Familiaris | Lethal Acrodysgenital Syndrome | Lethal Acrodysgenital Syndromes | Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung | Reductase Deficiencies, 7-Dehydrocholesterol | Reductase Deficiency, 7-Dehydrocholesterol | RSH SLO Syndrome | RSH-SLO Syndrome | RSH-SLO Syndromes | RSH Syndrome | RSH Syndromes | Rutledge Friedman Harrod Syndrome | Rutledge Lethal Multiple Congenital Anomaly Syndrome | SLOS | SLO Syndrome | SLO Syndromes | Smith Lemli Opitz Syndrome | Smith Lemli Opitz syndrome, type 1 | Smith-Lemli-Opitz Syndrome, Type 1 | Smith Lemli Opitz Syndrome, Type 2 | Smith-Lemli-Opitz Syndrome, Type 2 | Smith Lemli Opitz Syndrome, Type I | Smith-Lemli-Opitz Syndrome, Type I | Smith Lemli Opitz Syndrome, Type II | Smith-Lemli-Opitz Syndrome, Type II | Syndrome, Lethal Acrodysgenital | Syndrome, RSH | Syndrome, SLO | Syndromes, RSH | Syndromes, SLO
Definition An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.
Categories Congenital abnormality | Genetic disease (inborn) | Metabolic disease
MeSH® ID D019082
OMIM® ID 270400
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Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Smith-Lemli-Opitz Syndrome Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Smith-Lemli-Opitz Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Steroid Metabolism, Inborn Errors Has associated chemicals Has associated genes Smith-Lemli-Opitz Syndrome Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism Disorders Has associated chemicals Has associated genes Has associated exposure references Dyslipidemias Has associated chemicals Has associated genes Has associated exposure references Smith-Lemli-Opitz Syndrome Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Smith-Lemli-Opitz Syndrome Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Steroid Metabolism, Inborn Errors Has associated chemicals Has associated genes Smith-Lemli-Opitz Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Smith-Lemli-Opitz Syndrome Has associated chemicals Has associated genes
  Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome