familial hyperinsulinemic hypoglycemia 1

Summary

DOID:0070219 - familial hyperinsulinemic hypoglycemia 1

Disease Ontology Definition:A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15.

Synonyms: HHF1

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: abcc8

MIM:

MIM:256450 - HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1

MIM:256450 - HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1

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), autosomal recessive disease (is_a), hyperinsulinemic hypoglycemia (is_a)