Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Disease ID: disease_node_16852
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| Dbxref | MIM:240900, ORDO:293964 |
|---|---|
| Subclassof | DOID_0050736, DOID_9993 |
| Data Source | DOID |
| Synonyms | HIHGHH, hypoinsulinemic hypoglycemia and body hemihypertrophy |
| Disease Has Feature | DOID_13317 |
| Doid Label | hypoinsulinemic hypoglycemia with hemihypertrophy |
| Doid Description | 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. |
| Has Phenotype | HP_0011015 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16852 |
| Doid Id | DOID_0112263 |
| Label | Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
- Outgoing r'ship
SUBCLASS_OFto/from Hypoglycemia(ID:disease_node_4186) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)