familial hyperinsulinemic hypoglycemia 4

Summary

DOID:0070215 - familial hyperinsulinemic hypoglycemia 4

Disease Ontology Definition:A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25.

Synonyms: HHF4, hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency, hyperinsulinism due to SCHAD deficiency, hyperinsulinism due to glutamodehydrogenase deficiency, hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency,

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

: hadh

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012382 - hyperinsulinemic hypoglycemia, familial, 4

MONDO:0012382 - hyperinsulinemic hypoglycemia, familial, 4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), genetic disease (is_a), hyperinsulinemic hypoglycemia (is_a)