Mondo Description Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene.

Uniprot Description A form of familial primary hyperparathyroidism, an 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.