cerebrotendinous xanthomatosis

created [InstanceEdit:5602197] Jassal, Bijay, 2014-06-20
databaseName DOID
dbId 5602095
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.
displayName cerebrotendinous xanthomatosis
identifier 4810
name
  • cerebrotendinous xanthomatosis
referenceDatabase [ReferenceDatabase:1247631] DOID
schemaClass Disease
synonym
  • cerebrotendinous xanthomatosis
  • Cholestanol storage disease (disorder)
url https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:4810
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