cerebrotendinous xanthomatosis (DOID:4810)
Alliance: disease page
Synonyms: Cholestanol storage disease
Alt IDs: OMIM:213700, MESH:D019294, NCI:C84628, ORDO:909, UMLS_CUI:C0238052
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.