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Disease Ontology Browser
cerebrotendinous xanthomatosis (DOID:4810)
Synonyms: Cholestanol storage disease (disorder)
Alt IDs: OMIM:213700, MESH:D019294, NCI:C84628, UMLS_CUI:C0238052
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.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/14/2017
MGI 6.08
The Jackson Laboratory