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Disease Ontology Browser
cerebrotendinous xanthomatosis (DOID:4810)
Alliance: disease page
Synonyms: Cholestanol storage disease
Alt IDs: OMIM:213700, MESH:D019294, NCI:C84628, ORDO:909, 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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory