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Metadata
ID DOID:0112263
Name hypoinsulinemic hypoglycemia with 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/
Xrefs

MIM:240900

ORDO:293964

Subsets

DO_rare_slim

Synonyms

HIHGHH [EXACT]

hypoinsulinemic hypoglycemia and body hemihypertrophy [EXACT]

Parent Relationships

is_a hypoglycemia

is_a autosomal dominant disease

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