Search Ontology:
Human Disease

hypoinsulinemic hypoglycemia with hemihypertrophy

Term ID
DOID:0112263
Synonyms
  • HIHGHH
  • hypoinsulinemic hypoglycemia and body hemihypertrophy
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. https://pubmed.ncbi.nlm.nih.gov/21979934/
References
Ontology
Human Disease   ( DOID:0112263 )
Relationships
is a type of
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Genes Involved
Zebrafish Models