familial adenomatous polyposis 1
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).
MONDO:0021057
classic or attenuated familial adenomatous polyposis
is_a
APC-related adenomatous polyposis
exact
FAP1
exact
adenoma, periampullary, somatic
exact
adenomatous polyposis coli
broad
familial adenomatous polyposis 1
exact