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Summary Literature (3)
DOID:0050424 - familial adenomatous polyposis


Disease Ontology Definition:An intestinal disease that has_material_basis_in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer.

Synonyms: adenomatous polyposis of the colon

In OMIM:
OMIM:175100 - FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1
OMIM:608456 - FAMILIAL ADENOMATOUS POLYPOSIS 2; FAP2

In Mondo Disease Ontology:
MONDO:0021055 - classic familial adenomatous polyposis

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : apc, nthl1, mutyh, msh3

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), autosomal genetic disease (is_a), intestinal disease (is_a)