familial hyperinsulinemic hypoglycemia 2 (Q60195060)
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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.
- HHF2
- hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia
- Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | familial hyperinsulinemic hypoglycemia 2 |
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. |
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1 reference