| Metadata | |
|---|---|
| ID | DOID:0080409 |
| Name | familial adenomatous polyposis 1 |
| 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. https://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis, https://www.ncbi.nlm.nih.gov/pubmed/1651563 |
| Xrefs |
ICDO:8220/3 |
| Alternateids |
DOID:8269 |
| Synonyms |
adenocarcinoma in adenomatous polyposis coli [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |