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DO Term : familial hyperinsulinemic hypoglycemia 2 [DOID:0070218] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia,
Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency,
601820,
OMIM:601820,
HHF2

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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