- Abnormality of the endocrine system (HP:0000818): An abnormality of the endocrine system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:276152)
- Hyperparathyroidism (HP:0000843): Excessive production of parathyroid hormone (PTH) by the parathyroid glands. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:276152)
- Parathyroid adenoma (HP:0002897): A benign tumor of the parathyroid gland that can cause hyperparathyroidism. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:276152)
- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:276152)
- Elevated circulating parathyroid hormone level (HP:0003165): An abnormal increased concentration of parathyroid hormone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:276152)
- Parathyroid hyperplasia (HP:0008208): Hyperplasia of the parathyroid gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:276152)
- Hyperinsulinemic hypoglycemia (HP:0000825): An increased concentration of insulin combined with a decreased concentration of glucose in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276152)
- Elevated circulating growth hormone concentration (HP:0000845): Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276152)
- Thyroid adenoma (HP:0000854): The presence of a adenoma of the thyroid gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276152)
- Subcutaneous lipoma (HP:0001031): The presence of subcutaneous lipoma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276152)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276152)
- Zollinger-Ellison syndrome (HP:0002044): A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276152)
- Episodic abdominal pain (HP:0002574): An intermittent form of abdominal pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276152)
- Pituitary adenoma (HP:0002893): A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276152)
- Peptic ulcer (HP:0004398): The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276152)
- Pituitary prolactin cell adenoma (HP:0006767): A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276152)
- Renal angiomyolipoma (HP:0006772): A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276152)
- Adrenocortical adenoma (HP:0008256): Adrenocortical adenomas are benign tumors of the adrenal cortex. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276152)
- Fasting hyperinsulinemia (HP:0008283): An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276152)
- Angiofibromas (HP:0010615): Angiofibroma consist of many often dilated vessels. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276152)
- Pituitary growth hormone cell adenoma (HP:0011760): A type of pituitary adenoma that produces growth hormone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276152)
- Pituitary null cell adenoma (HP:0011761): A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276152)
- Abnormality of pancreas physiology (HP:0012091): An anomaly of the function of the pancreas. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276152)
- Insulinoma (HP:0012197): A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276152)
- Pulmonary carcinoid tumor (HP:0030445): A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276152)
- Esophagitis (HP:0100633): Inflammation of the esophagus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276152)
- Neuroendocrine neoplasm (HP:0100634): A tumor that originates from a neuroendocrine cell. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276152)
- Increased circulating cortisol level (HP:0003118): Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276152)
- Parathyroid carcinoma (HP:0006780): A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276152)
- Confetti-like hypopigmented macules (HP:0007449). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276152)
- Pituitary corticotropic cell adenoma (HP:0008291): A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276152)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276152)
- Testicular neoplasm (HP:0010788): The presence of a neoplasm of the testis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276152)
- Increased urinary cortisol level (HP:0012030): Abnormally increased concentration of cortisol in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276152)
- Extrahepatic cholestasis (HP:0012334): Impairment of bile flow due to obstruction in large bile ducts outside the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276152)
- Cervix cancer (HP:0030079): A tumor of the uterine cervix. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276152)
- Increased glucagon level (HP:0030688): An elevated concentration of glucagon in the blood circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276152)
- Carcinoid tumor (HP:0100570): A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:276152)
- Thymoma (HP:0100522): A tumor originating from the epithelial cells of the thymus. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:276152)
These phenotypes are associated with the disease Multiple endocrine neoplasia type 4 (ORPHA:276152).