- Multiple lipomas (HP:0001012, a Human Phenotype Ontology term): The presence of multiple lipomas (a type of benign tissue made of fatty tissue). Evidence: IEA. (OMIM:600740)
- Bone pain (HP:0002653, a Human Phenotype Ontology term): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: TAS. (OMIM:600740)
- Peptic ulcer (HP:0004398, a Human Phenotype Ontology term): 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: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:600740)
- Renal insufficiency (HP:0000083, a Human Phenotype Ontology term): 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, a Human Phenotype Ontology term). (OMIM:600740)
- Hypercalcemia (HP:0003072, a Human Phenotype Ontology term): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: IEA. (OMIM:600740)
- Fatigue (HP:0012378, a Human Phenotype Ontology term): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:600740)
- Depression (HP:0000716, a Human Phenotype Ontology term): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:600740)
- Hypermagnesemia (HP:0002918, a Human Phenotype Ontology term): The concentration of magnesium in the blood circulation is above the upper limit of normal. Evidence: IEA. (OMIM:600740)
- Primary hyperparathyroidism (HP:0008200, a Human Phenotype Ontology term): 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: IEA. (OMIM:600740)
- Parathormone-independent increased renal tubular calcium reabsorption (HP:0003529, a Human Phenotype Ontology term): An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels. Evidence: IEA. (OMIM:600740)
- Osteomalacia (HP:0002749, a Human Phenotype Ontology term): Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. Evidence: TAS. (OMIM:600740)
- Chondrocalcinosis (HP:0000934, a Human Phenotype Ontology term): 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: IEA. (OMIM:600740)
- Muscle weakness (HP:0001324, a Human Phenotype Ontology term): Reduced strength of muscles. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:600740)
- Headache (HP:0002315, a Human Phenotype Ontology term): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:600740)
- Kidney stone (HP:0000787, a Human Phenotype Ontology term): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:600740)
- Pancreatitis (HP:0001733, a Human Phenotype Ontology term): The presence of inflammation in the pancreas. Evidence: IEA. (OMIM:600740)
- Hypocalciuria (HP:0003127, a Human Phenotype Ontology term): An abnormally decreased calcium concentration in the urine. Evidence: IEA. (OMIM:600740)
- Multiple small medullary renal cysts (HP:0008659, a Human Phenotype Ontology term): The presence of many cysts in the medulla of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:600740)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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: TAS. (OMIM:600740)
- Hypophosphatemia (HP:0002148, a Human Phenotype Ontology term): The concentration of phosphate ion in the blood circulation is below the lower limit of normal. Evidence: TAS. (OMIM:600740)
These phenotypes are associated with the disease familial hypocalciuric hypercalcemia 3 (OMIM:600740, an entry in Online Mendelian Inheritance in Man).