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. [ url:http://www.ncbi.nlm.nih.gov/books/NBK1409/ http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007646 http://purl.obolibrary.org/obo/ECO_0007636 url:http://en.wikipedia.org/wiki/Cerebrotendineous_xanthomatosis url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 url:http://rarediseasesnetwork.epi.usf.edu/stair/ctx/ ]

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:213700
  • SNOMEDCT_US_2021_03_01:63246000
  • UMLS_CUI:C0238052
  • GARD:5622
  • MESH:D019294
  • NCI:C84628
Subsets

NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

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.

has exact synonym

Cholestanol storage disease

has obo namespace

disease_ontology

id

DOID:4810

Term relations

Subclass of: