Term Name:	cerebrotendinous xanthomatosis
Synonyms:	Cholestanol storage disease
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.
Ontology:	Human Disease [DOID:4810]   ( DOID:4810 )