Term Name: familial hyperinsulinemic hypoglycemia 2
Synonyms: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, HHF2, hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia
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.
Ontology: Human Disease [DOID:0070218]   ( DOID:0070218 )

Relationships
is a type of: autosomal dominant disease autosomal recessive disease hyperinsulinemic hypoglycemia