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DO Term : familial hyperinsulinemic hypoglycemia 4 [DOID:0070215] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
hyperinsulinism due to SCHAD deficiency,
hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency,
hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency,
OMIM:609975,
hyperinsulinism due to glutamodehydrogenase deficiency,
609975,
ORDO:71212,
GARD:2819,
HHF4

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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