Search Ontology:
Human Disease

cerebrotendinous xanthomatosis

Term ID
DOID:4810
Synonyms
  • Cholestanol storage disease
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. (2)
References
Ontology
Human Disease   ( DOID:4810 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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