Compound: FDB012122 (Cholestanol)
Term: 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. (do).
Parent Term: Health condition
Parent Definition: A health effect that consists on short or long-term disease, condition, disorder, syndrome or constant abnormality.
Synonyms
Other Compounds Mapped to 'Cerebrotendinous xanthomatosis'