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Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Xanthomatosis, Cerebrotendinous
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Xanthomatosis, Cerebrotendinous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Xanthomatosis, Cerebrotendinous
Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Xanthomatosis > Xanthomatosis, Cerebrotendinous

Preferred term

Xanthomatosis, Cerebrotendinous  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Bogaert-Scherer-Epstein Disease, Van
  • Cerebral Cholesterinoses
  • Cerebral Cholesterinosis
  • Cerebrotendinous Xanthomatosis
  • Disease, Van Bogaert-Scherer-Epstein
  • Van Bogaert Scherer Epstein Disease
  • Van Bogaert-Scherer-Epstein Disease

Scope note

  • An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.

History note

  • 97

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URI

http://www.yso.fi/onto/mesh/D019294

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