"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.
An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding sterol 27-hydroxylase. 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.
- Xanthomatosis, Cerebrotendinous
- Cerebrotendinous Xanthomatoses
- Xanthomatoses, Cerebrotendinous
- Van Bogaert-Scherer-Epstein Disease
- Bogaert-Scherer-Epstein Disease, Van
- Disease, Van Bogaert-Scherer-Epstein
- Van Bogaert Scherer Epstein Disease
- Cerebral Cholesterinosis
- Cerebral Cholesterinoses
- Cerebrotendinous Xanthomatosis
Below are MeSH descriptors whose meaning is more general than "Xanthomatosis, Cerebrotendinous".
- Diseases [C]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Lipid Metabolism, Inborn Errors [C16.320.565.398]
- Xanthomatosis, Cerebrotendinous [C16.320.565.398.925]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Lipid Metabolism Disorders [C18.452.584]
- Xanthomatosis [C18.452.584.750]
- Xanthomatosis, Cerebrotendinous [C18.452.584.750.975]
- Metabolism, Inborn Errors [C18.452.648]
- Lipid Metabolism, Inborn Errors [C18.452.648.398]
- Xanthomatosis, Cerebrotendinous [C18.452.648.398.925]
Below are MeSH descriptors whose meaning is more specific than "Xanthomatosis, Cerebrotendinous".
This graph shows the total number of publications written about "Xanthomatosis, Cerebrotendinous" by people in the URMC Research Network by year, and whether "Xanthomatosis, Cerebrotendinous" was a major or minor topic of these publication.