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DOID:0070220 - familial hyperinsulinemic hypoglycemia 5
Disease Ontology 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.
Synonyms: HHF5, hyperinsulinemic hypoglycemia due to INSR deficiency, hyperinsulinemic hypoglycemia due to insulin receptor deficiency, hyperinsulinism due to INSR deficiency
Xenbase Genes
:
insr
| MONDO:0012381 - hyperinsulinism due to INSR deficiency |
| MIM:609968 - HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
genetic disease (is_a),
hyperinsulinemic hypoglycemia (is_a)