familial hyperinsulinemic hypoglycemia 1

Term ID

DOID:0070219

Synonyms

HHF1

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. (3)

References

OMIM:256450

Ontology

Human Disease ( DOID:0070219 )

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 Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations