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 5 ID (Ontology) DOID:0070220 (Human Disease)
Definition A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13.
Also Known As "HHF5" ; "hyperinsulinemic hypoglycemia due to INSR deficiency" ; "hyperinsulinemic hypoglycemia due to insulin receptor deficiency" (for all, see Synonyms field below)
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 Genes
 familial hyperinsulinemic hypoglycemia 5       3
 for disease ribbon | familial hyperinsulinemic hypoglycemia 5       3
 model of | familial hyperinsulinemic hypoglycemia 5       3
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease_____
hypoglycemia                       |
 |__hyperinsulinemic hypoglycemia__|
                                   familial hyperinsulinemic hypoglycemia 5  3 rec.
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Is a autosomal dominant disease
hyperinsulinemic hypoglycemia
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Synonyms
  • "HHF5" EXACT OMO:0003012
    "hyperinsulinemic hypoglycemia due to INSR deficiency" EXACT
    "hyperinsulinemic hypoglycemia due to insulin receptor deficiency" EXACT
    "hyperinsulinism due to INSR deficiency" EXACT
Secondary IDs
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MIM:609968
ORDO:263458