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. (Human Disease Ontology, DOID_4810)
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1 genes involed in the disease cerebrotendinous xanthomatosis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
