familial hypocalciuric hypercalcemia 1 (DOID:0060700)
Alliance: disease page
Synonyms: familial benign hypercalcemia 1; familial hypocalciuric hypercalcemia type I; FHH type 1; HHC1; hypocalciuric hypercalcemia type I
Alt IDs: OMIM:145980, ICD10CM:E83.5, ORDO:93372
Definition: A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.