Term Name: familial hypocalciuric hypercalcemia 3
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 )

Relationships
is a type of: familial hypocalciuric hypercalcemia