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Summary Literature (0)
DOID:0112263 - hypoinsulinemic hypoglycemia with hemihypertrophy

Disease Ontology 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.

Synonyms: HIHGHH, hypoinsulinemic hypoglycemia and body hemihypertrophy

Xenbase Genes : akt2


MIM:
MIM:240900 - HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY; HIHGHH

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), hypoglycemia (is_a)