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cerebrotendinous xanthomatosis

^ http://purl.obolibrary.org/obo/DOID_4810


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/ url:http://rarediseasesnetwork.epi.usf.edu/stair/ctx/ url:http://en.wikipedia.org/wiki/Cerebrotendineous_xanthomatosis url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 ]

Synonyms: Cholestanol storage disease

Term info

database cross reference
  • UMLS_CUI:C0238052
  • MESH:D019294
  • NCI:C84628
  • OMIM:213700
  • GARD:5622
  • SNOMEDCT_US_2018_03_01:63246000
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OMIM mapping confirmed by DO. [SN].

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disease_ontology

id

DOID:4810

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