- Skin tags (HP:0010609): Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:122)
- Fibrofolliculoma (HP:0030436): Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:122)
- Spontaneous pneumothorax (HP:0002108): Pneumothorax occurring without traumatic injury to the chest or lung. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:122)
- Multiple pulmonary cysts (HP:0005948): The presence of multiple lung cysts. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:122)
- Repeated pneumothoraces (HP:0006522). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:122)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:122)
- Multiple lipomas (HP:0001012): The presence of multiple lipomas (a type of benign tissue made of fatty tissue). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:122)
- Pneumothorax (HP:0002107): Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:122)
- Neoplasm (HP:0002664): An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:122)
- Medullary thyroid carcinoma (HP:0002865): The presence of a medullary carcinoma of the thyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:122)
- Parathyroid adenoma (HP:0002897): A benign tumor of the parathyroid gland that can cause hyperparathyroidism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:122)
- Renal cell carcinoma (HP:0005584): A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:122)
- Angiofibromas (HP:0010615): Angiofibroma consist of many often dilated vessels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:122)
- Cutaneous melanoma (HP:0012056): The presence of a melanoma of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:122)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:122)
- Salivary gland oncocytoma (HP:0031523): A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:122)
- Trichodiscoma (HP:0032228): A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:122)
- Epidermoid cyst (HP:0200040): Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts. A central, dark comedone opening (punctum) may be present. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:122)
- Collagenoma (HP:6000022): A rare hamartomatous malformation characterized by the predominant proliferation of normal collagen fibers and normal, decreased, or increased elastic fibers. Collagenomas may be solitary or multiple, sporadic, acquired or inherited. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:122)
- Thyroid cyst (HP:6000853): A fluid-filled sac or cavity that develops due to fluid accumulation within the thyroid tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:122)
- Oral mucosal papule (HP:6000957): A small (less than 5 mm in diameter), elevated, circumscribed, solid, palpable mass located in thte mucosa of the oral cavity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:122)
These phenotypes are associated with the disease Birt-Hogg-Dubé syndrome (ORPHA:122).