Human genes for familial hyperinsulinemic hypoglycemia 2
Familial hyperinsulinemic hypoglycemia 2 [DOID:0070218]
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.
Synonyms: familial hyperinsulinemic hypoglycemia 2, DOID:0070218, hereditary hyperinsulinemic hypoglycemia 2, Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, HHF2 ...