cerebrotendinous xanthomatosis (Monarch Disease Ontology entry MONDO_0008948) (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction. Also known as: CTX, CTx, cholestanol storage disease, sterol 27-hydroxylase deficiency.