FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term cerebrotendinous xanthomatosis ID (Ontology) DOID:4810 (Human 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.
Also Known As "Cholestanol storage disease"
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 Genes
 cerebrotendinous xanthomatosis      10
 for disease ribbon | cerebrotendinous xanthomatosis      10
 model of | cerebrotendinous xanthomatosis      10
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  lipid storage disease
   |__xanthomatosis
       |__cerebrotendinous xanthomatosis  10 rec.
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Synonyms
  • "Cholestanol storage disease" EXACT
Secondary IDs
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GARD:5622
MESH:D019294
MIM:213700
NCI:C84628
ORDO:909
SNOMEDCT_US_2023_03_01:63246000
UMLS_CUI:C0238052