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Turcot syndrome with polyposis

Disease definition

Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions.

ORPHA:99818

  • Synonym(s): -
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: D12.6
  • OMIM: 175100
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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Additional information

Further information on this disease

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