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Browse result for Hypoinsulinemic hypoglycemia with hemihypertrophy
※ introduction 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.
Reference
DiseaseOntology: Hypoinsulinemic hypoglycemia with hemihypertrophy
Reference
DiseaseOntology: Hypoinsulinemic hypoglycemia with hemihypertrophy
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00241 | P31751 | 208 | AKT2 | RAC-beta serine/threonine-protein kinase | Homo sapiens |
