Phenotypes associated with the disease colorectal cancer (OMIM:114500):
- Hereditary nonpolyposis colorectal carcinoma (HP:0006716). Evidence: TAS. (OMIM:114500)
- Typified by somatic mosaicism (HP:0001442): Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic. Evidence: TAS. (OMIM:114500)
- Colon cancer (HP:0003003). Evidence: TAS. (OMIM:114500)
- Uterine leiomyosarcoma (HP:0002891): The presence of a leiomyosarcoma of the uterus. Evidence: TAS. (OMIM:114500)
- Renal cell carcinoma (HP:0005584): A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. Evidence: TAS. (OMIM:114500)
- Transitional cell carcinoma of the bladder (HP:0006740): The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell. Evidence: TAS. (OMIM:114500)
- Neoplasm of the stomach (HP:0006753): A tumor (abnormal growth of tissue) of the stomach. Evidence: TAS. (OMIM:114500)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:114500)