- 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:300813)
- Synovial sarcoma (HP:0012570): A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities. Evidence: IEA. (OMIM:300813)
These phenotypes are associated with the disease synovial sarcoma (OMIM:300813).