ZFIN Human Disease: familial hyperinsulinemic hypoglycemia 2

OBO ID: DOID:0070218

Term Name:	familial hyperinsulinemic hypoglycemia 2		Search Ontology:
Synonyms:	Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia
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. (2)
References:	OMIM:601820
Ontology:	Human Disease ( DOID:0070218 )

Relationships

is a type of:	autosomal dominant disease autosomal recessive disease hyperinsulinemic hypoglycemia autosomal dominant disease autosomal recessive disease hyperinsulinemic hypoglycemia Show first 5 Terms

OTHER familial hyperinsulinemic hypoglycemia 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
KCNJ11	kcnj11	Hyperinsulinemic hypoglycemia, familial, 2	601820

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None