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

• GARD:5622
• MESH:D019294
• MIM:213700
• NCI:C84628
• ORDO:909
• SNOMEDCT_US_2023_03_01:63246000
• UMLS_CUI:C0238052

Ontology

Human Disease   ( DOID:4810 )