- Cutaneous melanoma (HP:0012056): The presence of a melanoma of the skin. Evidence: TAS. (OMIM:609048)
- Atypical nevi in non-sun exposed areas (HP:0001074). Evidence: TAS. (OMIM:609048)
- Atypical nevus (HP:0001062): A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink. Evidence: TAS. (OMIM:609048)
- Numerous nevi (HP:0001054). Evidence: TAS. (OMIM:609048)
- 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:609048)
These phenotypes are associated with the disease melanoma, cutaneous malignant, susceptibility to, 3 (OMIM:609048).