- Breast carcinoma (HP:0003002): The presence of a carcinoma of the breast. Evidence: PCS. Frequency: 1/2. (PMID:23246288)
- Papilloma (HP:0012740): A tumor of the skin or mucous membrane with finger-like projections. Evidence: PCS. Frequency: 1/2. (PMID:23246288)
- Thyroid carcinoma (HP:0002890): The presence of a carcinoma of the thyroid gland. Evidence: PCS. Frequency: 1/2. (PMID:23246288)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. (PMID:23246288)
- Renal cell carcinoma (HP:0005584): A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. Evidence: PCS. Frequency: 1/2. (PMID:23246288)
- Thyroid nodule (HP:0025388): A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland. Evidence: PCS. Frequency: 1/2. (PMID:23246288)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/1. (PMID:23246288)
- 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: PCS. (PMID:23246288)
These phenotypes are associated with the disease Cowden syndrome 6 (OMIM:615109).