RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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.
Synonyms:
exact_synonym:
7-Dehydrocholesterol Reductase Deficiencies; 7-Dehydrocholesterol Reductase Deficiency; Hyperotosis Corticalis Generalisata Familiaris; Lethal Acrodysgenital Syndrome; Lethal Acrodysgenital Syndromes; Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung; RSH SLO Syndrome; RSH Syndrome; RSH Syndromes; RSH-SLO Syndromes; Rutledge Friedman Harrod Syndrome; Rutledge Lethal Multiple Congenital Anomaly Syndrome; SLO Syndrome; SLO Syndromes; SLOS; Smith Lemli Opitz Syndrome, Type 2; Smith Lemli Opitz Syndrome, Type I; Smith Lemli Opitz Syndrome, Type II; Smith Lemli Opitz syndrome, type 1; Smith-Opitz-Inborn syndrome
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