Familial hypocalciuric hypercalcemia 3

Definition

Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.

Also known as AP2S1 familial hypocalciuric hypercalcemia, familial hypocalciuric hypercalcemia caused by mutation in AP2S1, familial hypocalciuric hypercalcemia type 3, FHH type 3, HHC3, hpocalciuric hypercalcemia, type III — per MONDO

Also identified as

• DOID 0060702 per MONDO
• MESH C537147 per MONDO
• OMIM 600740 per MONDO
• Orphanet 101050 per MONDO
• UMLS C1833372 per MONDO