Also known as Van Bogaert–Scherer–Epstein syndrome, Cholestanol storage disease (disorder), Cholestanol storage disease, CEREBROTENDINOUS XANTHOMATOSIS, CEREBROTENDINOUS XANTHOMATOSIS; CTX, CTX,
via PubMed
autosomal recessive form of xanthomatosis.
via Wikidata · CC0
via Wikidata sitelinks · CC0
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).