- Basal cell carcinoma (HP:0002671): The presence of a basal cell carcinoma of the skin. Evidence: IEA. (OMIM:226400)
- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: IEA. (OMIM:226400)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:226400)
- Verrucae (HP:0200043): Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas. Evidence: IEA. (OMIM:226400)
These phenotypes are associated with the disease epidermodysplasia verruciformis, susceptibility to, 1 (OMIM:226400).