Familial Hyperinsulinemic Hypoglycemia 5
Disease ID: disease_node_16854
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| Dbxref | MIM:609968, ORDO:263458 |
|---|---|
| Subclassof | DOID_0050736, DOID_13317 |
| Data Source | DOID |
| Synonyms | HHF5, hyperinsulinemic hypoglycemia due to INSR deficiency, hyperinsulinemic hypoglycemia due to insulin receptor deficiency, hyperinsulinism due to INSR deficiency |
| Doid Label | familial hyperinsulinemic hypoglycemia 5 |
| Doid Description | A hyperinsulinemic hypoglycemia characterized by autosomal domit inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13. |
| Has Phenotype | HP_0011015 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16854 |
| Doid Id | DOID_0070220 |
| Label | Familial Hyperinsulinemic Hypoglycemia 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Nesidioblastosis(ID:disease_node_11328) (Disease)