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Metadata
ID DOID:0070218
Name familial hyperinsulinemic hypoglycemia 2
Definition 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.
https://www.ncbi.nlm.nih.gov/pubmed/8923010, https://www.ncbi.nlm.nih.gov/pubmed/9356020
Xrefs

OMIM:601820

Synonyms

Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency [EXACT]

HHF2 [EXACT]

hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia [EXACT]

Parent Relationships

is_a hyperinsulinemic hypoglycemia

is_a autosomal recessive disease

is_a autosomal dominant disease

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