- Papillary thyroid carcinoma (HP:0002895): The presence of a papillary adenocarcinoma of the thyroid gland. Evidence: PCS. Frequency: 6/7. (PMID:26522472)
- Breast carcinoma (HP:0003002): The presence of a carcinoma of the breast. Evidence: TAS. (OMIM:616858)
- Papilloma (HP:0012740): A tumor of the skin or mucous membrane with finger-like projections. Evidence: IEA. (OMIM:616858)
- Intestinal polyposis (HP:0200008): The presence of multiple polyps in the intestine. Evidence: TAS. (OMIM:616858)
- Trichilemmoma (HP:0012844): A benign tumor originating from the outer root sheath of the hair follicle. Evidence: PCS. (PMID:26522472)
- Ductal carcinoma in situ (HP:0030075): Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer. Evidence: TAS. (OMIM:616858)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: PCS. (PMID:26522472)
- Hashimoto thyroiditis (HP:0000872): A chronic, autoimmune type of thyroiditis associated with hypothyroidism. Evidence: TAS. (OMIM:616858)
- 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:26522472)
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: IEA. (OMIM:616858)
- Hemangioma (HP:0001028): A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). Evidence: PCS. (PMID:26522472)
These phenotypes are associated with the disease Cowden syndrome 7 (OMIM:616858).