Hyperparathyroidism 4

Definition

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

Also known as familial isolated hyperparathyroidism caused by mutation in GCM2, GCM2 familial isolated hyperparathyroidism, hyperparathyroidism 4, hyperparathyroidism type 4 — per MONDO

Also identified as

• OMIM 617343 per MONDO
• UMLS C4479229 per MONDO