| Disease ID | Source | Name | Description |
| 617343 | OMIM | Hyperparathyroidism 4 (HRPT4) | A form of familial primary hyperparathyroidism, a hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone due to parathyroid hyperplasia or neoplasms. Clinical features include hypercalcemia, phosphaturia, and increased bone resorption. HRPT4 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. |
| 618883 | OMIM | Hypoparathyroidism, familial isolated, 2 (FIH2) | An autosomal recessive form of hypoparathyroidism, a disorder characterized by hypocalcemia and hyperphosphatemia due to a deficiency of parathyroid hormone. Clinical features include seizures, tetany and cramps. The disease is caused by variants affecting the gene represented in this entry. |