- 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:145000)
- 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:145000)
- 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: IEA. (OMIM:145000)
These phenotypes are associated with the disease hyperparathyroidism 1 (OMIM:145000, an entry in Online Mendelian Inheritance in Man).