Term Name:	cerebrotendinous xanthomatosis
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 homozygous or compound heterozygous mutation in the CYP27A1 gene, which encodes sterol 27-hydroxylase, on chromosome 2q35.
Ontology:	Human Disease [DOID:4810]   ( DOID:4810 )