- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99879)
- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99879)
- Chondrocalcinosis (HP:0000934): Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) . Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99879)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99879)
- Hypophosphatemia (HP:0002148): The concentration of phosphate ion in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99879)
- Hypercalciuria (HP:0002150). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99879)
- Parathyroid adenoma (HP:0002897): A benign tumor of the parathyroid gland that can cause hyperparathyroidism. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99879)
- 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:99879)
- Hyperphosphaturia (HP:0003109): An increased excretion of phosphates in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99879)
- Elevated circulating parathyroid hormone level (HP:0003165): An abnormal increased concentration of parathyroid hormone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99879)
- Primary hyperparathyroidism (HP:0008200): A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99879)
- Abdominal symptom (HP:0011458): A subjective manifestation of disease localized to the abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99879)
- Generalized osteoporosis (HP:0040160). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99879)
These phenotypes are associated with the disease Familial isolated hyperparathyroidism (ORPHA:99879).