Skip to main

Medical Subject Headings (thesaurus)

Search from vocabulary

mapear
anotar
descargar

Concept information

Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > 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 > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Xanthomatosis, Cerebrotendinous
Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Xanthomatosis > Xanthomatosis, Cerebrotendinous

Término preferido

Xanthomatosis, Cerebrotendinous  

Notice: Undefined index: in /var/www/html/model/Concept.php on line 545

Tipo

  • mesh:Descriptor

Definición

  • 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.

Concepto genérico

Conceptos relacionados

Etiquetas alternativas

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

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-VP5FPVK5-H

Descargue este concepto:

RDF/XML TURTLE JSON-LD Creado 10/6/96, última modificación 30/6/21