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Turcot syndrome with polyposis

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0020497:  Turcot syndrome with polyposis
Orphanet:99818: 
UMLS:CN207386: