familial hypocalciuric hypercalcemia 3 (DOID:0060702)
Alliance: disease page
Synonyms: familial hypocalciuric hypercalcemia type 3; FHH type 3; HHC3; hypocalciuric hypercalcemia type III
Alt IDs: OMIM:600740, ICD10CM:E83.5, ORDO:101050
Definition: A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13.