- Adenomatous colonic polyposis (HP:0005227): Presence of multiple adenomatous polyps in the colon. Evidence: TAS. (OMIM:608456)
- Colon cancer (HP:0003003). Evidence: TAS. Frequency: 5/12. (PMID:12606733)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: TAS. (OMIM:608456)
These phenotypes are associated with the disease familial adenomatous polyposis 2 (OMIM:608456).