familial hyperinsulinemic hypoglycemia 2 (DOID:0070218)
Alliance: disease page
Synonyms: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency; HHF2; hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia
Alt IDs: OMIM:601820
Definition: A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1.