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Term:cerebrotendinous xanthomatosis
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Accession:DOID:4810 term browser browse the term
Definition:An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.
Synonyms:exact_synonym: CTX;   Cerebral Cholesterinosis;   Cerebrotendinous Xanthomatoses;   Cholestanol storage disease;   Van Bogaert Scherer Epstein disease;   cerebral cholesterinoses
 primary_id: MESH:D019294
 alt_id: OMIM:213700
 xref: GARD:5622;   NCI:C84628
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cerebrotendinous xanthomatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 JBrowse link 9 81,968,285 81,998,213 RGD:1600872

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  disease 15489
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        lipid metabolism disorder 744
          cerebrotendinous xanthomatosis 1
Path 2
Term Annotations click to browse term
  disease 0
    Developmental Diseases 8822
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7612
        genetic disease 7095
          inherited metabolic disorder 1887
            lipid metabolism disorder 744
              lipid storage disease 367
                xanthomatosis 5
                  cerebrotendinous xanthomatosis 1
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