familial hyperinsulinemic hypoglycemia 2

Summary

DOID:0070218 - familial hyperinsulinemic hypoglycemia 2

Disease Ontology Definition:A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1.

Synonyms: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, HHF2, hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia

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

: kcnj11

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011153 - hyperinsulinemic hypoglycemia, familial, 2

MONDO:0011153 - hyperinsulinemic hypoglycemia, familial, 2

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), genetic disease (is_a), hyperinsulinemic hypoglycemia (is_a)