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 ) |