Cerebrotendineous xanthomatosis
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ICD-10 | E75.5 |
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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.