OBO ID: DOID:0112263
Term Name: hypoinsulinemic hypoglycemia with hemihypertrophy Search Ontology:
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:
OTHER hypoinsulinemic hypoglycemia with hemihypertrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AKT2 Hypoinsulinemic hypoglycemia with hemihypertrophy 240900
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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