| Metadata | |
|---|---|
| ID | DOID:4810 |
| Name | cerebrotendinous xanthomatosis |
| Definition | A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma. http://en.wikipedia.org/wiki/Cerebrotendineous_xanthomatosis, http://www.ncbi.nlm.nih.gov/books/NBK1409/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:63246000 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Cholestanol storage disease [EXACT] |
| Parent Relationships |
is_a xanthomatosis |