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Human Disease
familial adenomatous polyposis 1
- Term ID
- DOID:0080409
- Synonyms
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- 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. (2)
- References
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- ICDO:8220/3
- MIM:175100
- Ontology
- Human Disease ( DOID:0080409 )
- is a type of
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