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familial adenomatous polyposis 1

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene.
Uniprot Description A cancer predisposition syndrome characterized by adenomatous polyps of the colon and rectum, but also of upper gastrointestinal tract (ampullary, duodenal and gastric adenomas). This is a viciously premalignant disease with one or more polyps progressing through dysplasia to malignancy in untreated gene carriers with a median age at diagnosis of 40 years.
Mondo Term and Equivalent IDs
MONDO:0021056:  familial adenomatous polyposis 1