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familial hyperinsulinemic hypoglycemia 2
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease autosomal recessive disease hyperinsulinemic hypoglycemia
External Links
- Disease Ontology
- DOID:0070218
- Mondo Disease Ontology
- OMIM
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