- Epidermal nevus (HP:0010816, a Human Phenotype Ontology term): Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood. Evidence: PCS. (PMID:17673550)
- Typified by somatic mosaicism (HP:0001442, a Human Phenotype Ontology term): 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: PCS. (PMID:17673550)
- Seborrheic keratosis (HP:0031287, a Human Phenotype Ontology term): A raised growth on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look. Evidence: PCS. (PMID:17673550)
These phenotypes are associated with the disease seborrheic keratosis (OMIM:182000, an entry in Online Mendelian Inheritance in Man).