Cerebrotendineous xanthomatosis

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Cerebrotendineous xanthomatosis
Classifications and external resources
ICD-10 E75.5
ICD-9 272.7
OMIM 213700
DiseasesDB 29239
MeSH D019294

Cerebrotendineous xanthomatosis (or cerebrotendinous xanthomatosis, with one fewer 'e', or Van Bogaert-Scherer-Epstein syndrome, or cerebrotendinous cholesterosis) is a form of xanthomatosis associated with the CYP27A1 gene on chromosome 2.

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