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Summary Literature (0)
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 Disease Ontology (on Monarch Initiative):
MONDO:0012381 - hyperinsulinism due to INSR deficiency


Other Model Organisms: AGR, 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)