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Smith-Lemli-Opitz Syndrome MeSH Descriptor Data 2023


MeSH Heading
Smith-Lemli-Opitz Syndrome
Tree Number(s)
C16.131.077.860
C16.320.565.398.850
C16.320.565.925.875
C18.452.584.500.937
C18.452.584.563.850
C18.452.648.398.850
C18.452.648.925.875
Unique ID
D019082
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D019082
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.
Entry Term(s)
7-Dehydrocholesterol Reductase Deficiency
Hyperotosis Corticalis Generalisata Familiaris
Lethal Acrodysgenital Syndrome
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung
RSH Syndrome
RSH-SLO Syndrome
Rutledge Friedman Harrod Syndrome
Rutledge Lethal Multiple Congenital Anomaly Syndrome
SLO Syndrome
Smith Lemli Opitz syndrome, type 1
Smith-Lemli-Opitz Syndrome, Type 1
Smith-Lemli-Opitz Syndrome, Type 2
Smith-Lemli-Opitz Syndrome, Type I
Smith-Lemli-Opitz Syndrome, Type II
Previous Indexing
Abnormalities, Multiple (1967-1995)
Public MeSH Note
1996
History Note
1996
Date Established
1996/01/01
Date of Entry
1995/06/05
Revision Date
2021/06/30
Smith-Lemli-Opitz Syndrome Preferred
Smith-Lemli-Opitz Syndrome, Type II Narrower
7-Dehydrocholesterol Reductase Deficiency Related
Smith-Lemli-Opitz Syndrome, Type I Narrower
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