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bn:01180275n
Noun Concept
Categories: Syndromes affecting head size, Cholesterol and steroid metabolism disorders, Genodermatoses, Rare diseases, Syndromes affecting the nervous system
EN
Smith-Lemli-Opitz syndrome  Smith–Lemli–Opitz syndrome  7-dehydrocholesterol reductase deficiency  Lethal Acrodysgenital Syndrome  Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung
EN
Smith–Lemli–Opitz syndrome is an inborn error of cholesterol synthesis. Wikipedia
Definitions
Relations
Sources
EN
Smith–Lemli–Opitz syndrome is an inborn error of cholesterol synthesis. Wikipedia
An inborn error of cholesterol synthesis. It is an autosomal recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrocholesterol reductase, or DHCR7. Wikidata
A congenital failure of cholesterol synthesis, with effects ranging from mild intellectual disability to lethal malformations. Wiktionary
IS A
rare disease
ptosis
syndrome
dyslipidemia
GENETIC ASSOCIATION
7-Dehydrocholesterol reductase
HEALTH SPECIALTY
medical genetics
NAMED AFTER
David Weyhe Smith
John M. Opitz
Luc Lemli
Wikipedia
EN
Smith–Lemli–Opitz syndrome
Wikidata
EN
Smith-Lemli-Opitz syndrome
Wiktionary
EN
Smith-Lemli-Opitz syndrome
Wikipedia Redirections
EN
7-dehydrocholesterol reductase deficiency, SLOS, Smith-Lemli-Opitz syndrome, Smith-lemli-opitz syndrome, Smith-Lemli-Opitz Syndrome, Smith Lemli Opitz Syndrome
Wikidata Alias
EN
7-dehydrocholesterol reductase deficiency, Lethal Acrodysgenital Syndrome, Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung, Polydactyly, sex reversal, renal hypoplasia, and unilobular lung, Rsh Syndrome, Rutledge lethal multiple congenital anomaly syndrome, Slo Syndrome, SLOS, SMITH-LEMLI-OPITZ SYNDROME, SMITH-LEMLI-OPITZ SYNDROME; SLOS, Smith-Opitz-Inborn syndrome, Smith Lemli Opitz syndrome, Smith–Lemli–Opitz syndrome

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