FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hypoinsulinemic hypoglycemia with hemihypertrophy ID (Ontology) DOID:0112263 (Human Disease)
Definition An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in the AKT2 gene on chromosome 19q13.2.
Also Known As "HIHGHH" ; "hypoinsulinemic hypoglycemia and body hemihypertrophy"
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 Genes
 hypoinsulinemic hypoglycemia with hemihypertrophy       1
 for disease ribbon | hypoinsulinemic hypoglycemia with hemihypertrophy       1
 model of | hypoinsulinemic hypoglycemia with hemihypertrophy       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
glucose metabolism disease      |
 |__hypoglycemia________________|
                                hypoinsulinemic hypoglycemia with hemihypertrophy  1 rec.
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Is a autosomal dominant disease
hypoglycemia
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Synonyms
  • "HIHGHH" EXACT OMO:0003012
    "hypoinsulinemic hypoglycemia and body hemihypertrophy" EXACT
Secondary IDs
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MIM:240900
ORDO:293964