Term Name: | familial hypocalciuric hypercalcemia 3 |
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Synonyms: | familial hypocalciuric hypercalcemia type 3, FHH type 3, HHC3, hypocalciuric hypercalcemia type III |
Definition: | A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13. |
Ontology: | Human Disease [DOID:0060702] ( DOID:0060702 ) |