| Metadata | |
|---|---|
| ID | DOID:0070218 |
| Name | familial hyperinsulinemic hypoglycemia 2 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/8923010, https://www.ncbi.nlm.nih.gov/pubmed/9356020 |
| Xrefs | |
| Synonyms |
Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency [EXACT] HHF2 [EXACT] hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia [EXACT] |
| Parent Relationships |
is_a hyperinsulinemic hypoglycemia |