FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term familial hyperinsulinemic hypoglycemia 2 ID (Ontology) DOID:0070218 (Human Disease)
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.
Also Known As "Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" ; "HHF2" ; "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia"
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 Genes
 familial hyperinsulinemic hypoglycemia 2       2
 for disease ribbon | familial hyperinsulinemic hypoglycemia 2       2
 model of | familial hyperinsulinemic hypoglycemia 2       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease_____
 |__autosomal recessive disease____|
hypoglycemia                       |
 |__hyperinsulinemic hypoglycemia__|
                                   familial hyperinsulinemic hypoglycemia 2  2 rec.
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Is a autosomal dominant disease
autosomal recessive disease
hyperinsulinemic hypoglycemia
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Synonyms
  • "Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" EXACT
    "HHF2" EXACT OMO:0003012
    "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia" EXACT
Secondary IDs
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MIM:601820