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Disease Ontology Browser
familial hyperinsulinemic hypoglycemia 5 (DOID:0070220)
Alliance: disease page
Synonyms: HHF5; hyperinsulinemic hypoglycemia due to INSR deficiency; hyperinsulinemic hypoglycemia due to insulin receptor deficiency; hyperinsulinism due to INSR deficiency
Alt IDs: OMIM:609968, ORDO:263458
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory