| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
HIHGHH [EXACT] hypoinsulinemic hypoglycemia and body hemihypertrophy [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a hypoglycemia |
| Subclass Logical Relationships |
has phenotype some Abnormal blood glucose concentration has material basis in some autosomal dominant inheritance disease has feature some hyperinsulinemic hypoglycemia |