Familial adenomatous polyposis 1

MONDO:0021056

An autosomal dominant disorder caused by pathogenic variants in the APC gene, characterized by the development of colorectal adenomatous polyposis, a very high risk of colorectal cancer and other extracolonic manifestations including both classic and attenuated familial adenomatous polyposis (FAP).

Also known as: adenomatous polyposis coli, APC-related adenomatous polyposis, FAP1, adenoma, periampullary, somatic, familial adenomatous polyposis 1, Gardner syndrome, adenomatous polyposis coli, attenuated, adenomatous polyposis of the colon

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