Biomaterial Database

Cholesterol supplementation in Smith-Lemli-Opitz syndrome. 1998

D N Abuelo

UI	MeSH Term	Description	Entries
D008297	Male		Males
D002791	Cholesterol, Dietary	Cholesterol present in food, especially in animal products.	Dietary Cholesterol
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D019082	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 INTELLECTUAL DISABILITY.	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,7-Dehydrocholesterol Reductase Deficiencies,Acrodysgenital Syndrome, Lethal,Acrodysgenital Syndromes, Lethal,Deficiencies, 7-Dehydrocholesterol Reductase,Deficiency, 7-Dehydrocholesterol Reductase,Lethal Acrodysgenital Syndromes,RSH SLO Syndrome,RSH Syndromes,RSH-SLO Syndromes,Reductase Deficiencies, 7-Dehydrocholesterol,Reductase Deficiency, 7-Dehydrocholesterol,SLO Syndromes,Smith Lemli Opitz Syndrome,Smith Lemli Opitz Syndrome, Type 2,Smith Lemli Opitz Syndrome, Type I,Smith Lemli Opitz Syndrome, Type II,Syndrome, Lethal Acrodysgenital,Syndrome, RSH,Syndrome, SLO,Syndromes, RSH,Syndromes, SLO