- Cutaneous melanoma (HP:0012056, a Human Phenotype Ontology term): The presence of a melanoma of the skin. Evidence: TAS. (OMIM:155600)
- Uveal melanoma (HP:0007716, a Human Phenotype Ontology term): A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid). Evidence: TAS. (OMIM:155600)
- Atypical nevi in non-sun exposed areas (HP:0001074, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:155600)
- Atypical nevus (HP:0001062, a Human Phenotype Ontology term): 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: IEA. (OMIM:155600)
- Numerous nevi (HP:0001054, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:155600)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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: IEA. (OMIM:155600)
- Abnormality of the eye (HP:0000478, a Human Phenotype Ontology term): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: IEA. (OMIM:155600)
These phenotypes are associated with the disease melanoma, cutaneous malignant, susceptibility to, 1 (OMIM:155600, an entry in Online Mendelian Inheritance in Man).