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DOID:4810 - cerebrotendinous xanthomatosis
Disease Ontology 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.
Synonyms: Cholestanol storage disease, Cholestanol storage disease (disorder),
Xenbase Genes
:
cyp27a1,
cyp27a1.4,
cyp27a1.5 (prov),
cyp27a1.3,
cyp27a1.2
| MONDO:0008948 - cerebrotendinous xanthomatosis |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
xanthomatosis (is_a)