- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:319487)
- Spinal cord compression (HP:0002176): External mechanical compression of the spinal cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:319487)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:319487)
- Chronic noninfectious lymphadenopathy (HP:0002730): A chronic form of lymphadenopathy that is not related to infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:319487)
- Abnormal lymph node morphology (HP:0002733): A structural lymph node abnormality. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:319487)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:319487)
- Papillary thyroid carcinoma (HP:0002895): The presence of a papillary adenocarcinoma of the thyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:319487)
- Colon cancer (HP:0003003). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:319487)
- Nodular goiter (HP:0005994): Enlargement of the thyroid gland related to one or more nodules in the thyroid gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319487)
- Chronic lung disease (HP:0006528): According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:319487)
- Follicular thyroid carcinoma (HP:0006731): The presence of an follicular adenocarcinoma of the thyroid gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319487)
- Papillary renal cell carcinoma (HP:0006766): The presence of renal cell carcinoma in the renal papilla. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:319487)
- Neoplasm of head and neck (HP:0012288): A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319487)
- Pain (HP:0012531): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:319487)
- Abnormal neck blood vessel morphology (HP:3000037): An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319487)
These phenotypes are associated with the disease Familial papillary or follicular thyroid carcinoma (ORPHA:319487).