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Käsitteen tiedot

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

Käytettävä termi

Smith-Lemli-Opitz Syndrome  

Tyyppi

  • Topical Descriptor

Yläkäsite

Ohjaustermit

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

Käyttöhuomautus

  • 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.

Huomautus muutoshistoriasta

  • 1996

Muunkieliset termit

URI

http://www.yso.fi/onto/mesh/D019082

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RDF/XML TURTLE JSON-LD Luotu 5.6.1995, viimeksi muokattu 30.6.2021