Also known as Van Bogaert–Scherer–Epstein syndrome, Cholestanol storage disease (disorder), Cholestanol storage disease, CEREBROTENDINOUS XANTHOMATOSIS; CTX, CTX, Sterol 27-hydroxylase deficiency, Cerebral Cholesterinosis
autosomal recessive form of xanthomatosis.
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Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).