First Header Logo Second Header Logo

Xanthomatosis, Cerebrotendinous

"Xanthomatosis, Cerebrotendinous" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

expand / collapse MeSH information
An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.

expand / collapse publications
This graph shows the total number of publications written about "Xanthomatosis, Cerebrotendinous" by people in this website by year, and whether "Xanthomatosis, Cerebrotendinous" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.