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Metadata
ID DOID:0070219
Name familial hyperinsulinemic hypoglycemia 1
Definition A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15.
https://www.ncbi.nlm.nih.gov/pubmed/7005072, https://www.ncbi.nlm.nih.gov/pubmed/7716548, https://www.ncbi.nlm.nih.gov/pubmed/8545179
Xrefs

OMIM:256450

Synonyms

HHF1 [EXACT]

Parent Relationships

is_a genetic disease

is_a hyperinsulinemic hypoglycemia

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