Term Name: | familial hypocalciuric hypercalcemia 1 |
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Synonyms: | familial benign hypercalcemia 1, familial hypocalciuric hypercalcemia type I, FHH type 1, HHC1, hypocalciuric hypercalcemia type I |
Definition: | A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21. |
Ontology: | Human Disease [DOID:0060700] ( DOID:0060700 ) |