hypoinsulinemic hypoglycemia with hemihypertrophy Disease Ontology Browser

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Disease Ontology Browser

hypoinsulinemic hypoglycemia with hemihypertrophy (DOID:0112263)
Alliance: disease page
Synonyms: HIHGHH; hypoinsulinemic hypoglycemia and body hemihypertrophy
Alt IDs: OMIM:240900, ORDO:293964
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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