Term Name: | familial adenomatous polyposis 1 |
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Synonyms: | adenocarcinoma in adenomatous polyposis coli |
Definition: | A familial adenomatous polyposis that is characterized by predisposition to cancer and that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. |
Ontology: | Human Disease [DOID:0080409] ( DOID:0080409 ) |