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Summary Literature (0)
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 : hadh

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012382 - hyperinsulinemic hypoglycemia, familial, 4

OMIM:
OMIM:609975 - HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): genetic disease (is_a), hyperinsulinemic hypoglycemia (is_a)