Version: 8.0.0
Date: Tue Jan 28 2025
cerebrotendinous xanthomatosis
DOID:4810
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

cerebrotendinous xanthomatosis

Definition
A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma.
Synonyms
  • Cholestanol storage disease
Cross References
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None
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