"Smith-Lemli-Opitz Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
- Smith-Lemli-Opitz Syndrome
- Smith Lemli Opitz Syndrome
- RSH-SLO Syndrome
- RSH SLO Syndrome
- RSH-SLO Syndromes
- Hyperotosis Corticalis Generalisata Familiaris
- SLO Syndrome
- SLO Syndromes
- Syndrome, SLO
- Syndromes, SLO
- Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung
- RSH Syndrome
- RSH Syndromes
- Syndrome, RSH
- Syndromes, RSH
Smith-Lemli-Opitz Syndrome, Type II
- 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 I
- Smith-Lemli-Opitz Syndrome, Type 1
- Smith Lemli Opitz syndrome, type 1
Below are MeSH descriptors whose meaning is more general than "Smith-Lemli-Opitz Syndrome".
- Diseases [C]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
- Abnormalities, Multiple [C16.131.077]
- Smith-Lemli-Opitz Syndrome [C16.131.077.860]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Lipid Metabolism, Inborn Errors [C16.320.565.398]
- Smith-Lemli-Opitz Syndrome [C16.320.565.398.850]
- Steroid Metabolism, Inborn Errors [C16.320.565.925]
- Smith-Lemli-Opitz Syndrome [C16.320.565.925.875]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Lipid Metabolism Disorders [C18.452.584]
- Dyslipidemias [C18.452.584.500]
- Smith-Lemli-Opitz Syndrome [C18.452.584.500.937]
- Metabolism, Inborn Errors [C18.452.648]
- Lipid Metabolism, Inborn Errors [C18.452.648.398]
- Smith-Lemli-Opitz Syndrome [C18.452.648.398.850]
- Steroid Metabolism, Inborn Errors [C18.452.648.925]
- Smith-Lemli-Opitz Syndrome [C18.452.648.925.875]
Below are MeSH descriptors whose meaning is more specific than "Smith-Lemli-Opitz Syndrome".
This graph shows the total number of publications written about "Smith-Lemli-Opitz Syndrome" by people in this website by year, and whether "Smith-Lemli-Opitz Syndrome" was a major or minor topic of these publications.
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Below are the most recent publications written about "Smith-Lemli-Opitz Syndrome" by people in Profiles.
Alteration of retinal rod outer segment membrane fluidity in a rat model of Smith-Lemli-Opitz syndrome. J Lipid Res. 2008 Jul; 49(7):1488-99.
Lipidomic analysis of the retina in a rat model of Smith-Lemli-Opitz syndrome: alterations in docosahexaenoic acid content of phospholipid molecular species. J Neurochem. 2008 May; 105(3):1032-47.
Molecular analysis of deletion (17)(p11.2p11.2) in a family segregating a 17p paracentric inversion: implications for carriers of paracentric inversions. Am J Hum Genet. 1997 May; 60(5):1184-93.
Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome. Am J Med Genet. 1997 Jan 31; 68(3):315-21.