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Concept information

Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Smith-Lemli-Opitz Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Smith-Lemli-Opitz Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Smith-Lemli-Opitz Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Steroid Metabolism, Inborn Errors > Smith-Lemli-Opitz Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Steroid Metabolism, Inborn Errors > Smith-Lemli-Opitz Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Smith-Lemli-Opitz Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Dyslipidemias > Smith-Lemli-Opitz Syndrome

Terme préférentiel

Smith-Lemli-Opitz Syndrome  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Synonyme(s)

  • Hyperotosis Corticalis Generalisata Familiaris
  • Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung
  • RSH-SLO Syndrome
  • RSH Syndrome
  • SLO Syndrome

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-ZD05LCVZ-F

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RDF/XML TURTLE JSON-LD Date de création 05/06/1995, dernière modification le 30/06/2021