familial hyperinsulinemic hypoglycemia 6

Summary

DOID:0070217 - familial hyperinsulinemic hypoglycemia 6

Disease Ontology Definition:A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3.

Synonyms: HHF6, HI/HA syndrome, hyperinsulinism-hyperammonemia syndrome

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

: glud1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011717 - hyperinsulinism-hyperammonemia syndrome

MONDO:0011717 - hyperinsulinism-hyperammonemia syndrome

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)