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disease > congenital disease > malformation > Smith-Lemli-Opitz dwarfism
disease > genetic disease > hereditary disease > Smith-Lemli-Opitz dwarfism
disease > diseases of the osteoarticular system > osteochondrodysplasia > dwarfism > Smith-Lemli-Opitz dwarfism
disease > digestive diseases > Smith-Lemli-Opitz dwarfism
disease > complex syndrome > Smith-Lemli-Opitz dwarfism
disease > nervous system diseases > Smith-Lemli-Opitz dwarfism
... > disease > metabolic diseases > dyslipemia > hypolipoproteinemia > hypocholesterolemia > Smith-Lemli-Opitz dwarfism
... > disease > biological abnormality > dyslipemia > hypolipoproteinemia > hypocholesterolemia > Smith-Lemli-Opitz dwarfism

Preferred term

Smith-Lemli-Opitz dwarfism  

Definition(s)

  • Smith–Lemli–Opitz syndrome is an inborn error of cholesterol synthesis. It is an autosomal recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrocholesterol reductase encoded by the DHCR7 gene. (Wikipedia)

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http://data.loterre.fr/ark:/67375/VH8-Z5XTW2TT-T

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RDF/XML TURTLE JSON-LD Last modified 5/14/20