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Illness finder is a diagnostic medicine tool for educational purpose that looks up your patients' health conditions or symptoms and diagnosis and find diseases or illnesses based on chosen gender, age, risk factors, illness, signs, symptoms and prevalence. Illnessfinder is inspired by Evidence based medicine (EMB) and healthcare that aims to apply the best (most reliable) knowledge that is available at decision time. Illnessfinder aims to free up time for the therapeutic dialogue and ensure quality at the evidence based practice, uniting proven medical findings and clinical evidence with systematised data technology.
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| Smith-Lemli-Opitz Syndrome | Legal notice |
Other terms
Smith Lemli Opitz Syndrome,RSH-SLO Syndrome,RSH SLO Syndrome,RSH-SLO Syndromes,Smith-Lemli-Opitz Syndrome, Type II,Smith Lemli Opitz Syndrome, Type II,Smith-Lemli-Opitz Syndrome, Type 2,Smith Lemli Opitz Syndrome, Type 2,Rutledge Lethal Multiple Congenital Anomaly Syndrome,Lethal Acrodysgenital Syndrome,Acrodysgenital Syndrome, Lethal,Acrodysgenital Syndromes, Lethal,Lethal Acrodysgenital Syndromes,Syndrome, Lethal Acrodysgenital,Rutledge Friedman Harrod Syndrome,7-Dehydrocholesterol Reductase Deficiency,7 Dehydrocholesterol Reductase Deficiency,7-Dehydrocholesterol Reductase Deficiencies,Deficiencies, 7-Dehydrocholesterol Reductase,Deficiency, 7-Dehydrocholesterol Reductase,Reductase Deficiencies, 7-Dehydrocholesterol,Reductase Deficiency, 7-Dehydrocholesterol,Smith-Lemli-Opitz Syndrome, Type I,Smith Lemli Opitz Syndrome, Type I,Smith-Lemli-Opitz Syndrome, Type 1,Smith Lemli Opitz syndrome, type 1
Description
Smith-Lemli-Opitz Syndrome: 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 MENTAL RETARDATION.
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- Abnormalities, Multiple
- Lipid Metabolism, Inborn Errors
- Steroid Metabolism, Inborn Errors
- Lipid Metabolism, Inborn Errors
- Steroid Metabolism, Inborn Errors
Legal notice
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The version of the data is 2010 MeSH. Last reviewed April 26, 2010. No modification has been made in the content of the file.
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