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MeSH Tree Location(s) for Smith-Lemli-Opitz Syndrome

Scope Note:
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.


Location corresponding to Mesh Number C16.131.077.860

Abnormalities, Multiple  Missbildningar, multipla
Smith-Lemli-Opitz Syndrome   Smith-Lemli-Opitz syndrom
SLOS
Location corresponding to Mesh Number C16.320.565.398.850

Lipid Metabolism, Inborn Errors  Fettomsättningsrubbningar, medfödda
Smith-Lemli-Opitz Syndrome   Smith-Lemli-Opitz syndrom
SLOS
Location corresponding to Mesh Number C16.320.565.925.875

Steroid Metabolism, Inborn Errors  Steroider, medfödda ämnesomsättningsrubbningar
Smith-Lemli-Opitz Syndrome   Smith-Lemli-Opitz syndrom
SLOS
Location corresponding to Mesh Number C18.452.584.500.937

Dyslipidemias  Dyslipidemier
Smith-Lemli-Opitz Syndrome   Smith-Lemli-Opitz syndrom
SLOS
Location corresponding to Mesh Number C18.452.648.398.850

Lipid Metabolism, Inborn Errors  Fettomsättningsrubbningar, medfödda
Smith-Lemli-Opitz Syndrome   Smith-Lemli-Opitz syndrom
SLOS
Location corresponding to Mesh Number C18.452.648.925.875

Steroid Metabolism, Inborn Errors  Steroider, medfödda ämnesomsättningsrubbningar
Smith-Lemli-Opitz Syndrome   Smith-Lemli-Opitz syndrom
SLOS
MeSH Start Page
© Karolinska Institutet University Library 1998. Last modified 2013-01-31.