Term Name: familial adenomatous polyposis 1
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 )

Relationships
is a type of: autosomal dominant disease familial adenomatous polyposis