Metadata | |
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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 | |
Subsets |
DO_rare_slim |
Synonyms |
HIHGHH [EXACT] hypoinsulinemic hypoglycemia and body hemihypertrophy [EXACT] |
Parent Relationships |
is_a hypoglycemia |