- 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: IEA. (OMIM:133239)
- Esophageal carcinoma (HP:0011459): The presence of a carcinoma of the esophagus. Evidence: TAS. (OMIM:133239)
These phenotypes are associated with the disease esophageal cancer (OMIM:133239).