Term Name: | familial hyperinsulinemic hypoglycemia 5 |
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Synonyms: | HHF5, hyperinsulinemic hypoglycemia due to INSR deficiency, hyperinsulinemic hypoglycemia due to insulin receptor deficiency, hyperinsulinism due to INSR deficiency |
Definition: | A hyperinsulinemic hypoglycemia characterized by autosomal dominant 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. |
Ontology: | Human Disease [DOID:0070220] ( DOID:0070220 ) |