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Metadata
ID DOID:0070216
Name familial hyperinsulinemic hypoglycemia 3
Definition A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13.
https://www.ncbi.nlm.nih.gov/pubmed/11916951, https://www.ncbi.nlm.nih.gov/pubmed/9435328
Xrefs

GARD:2818

OMIM:602485

ORDO:79299

Subsets

DO_rare_slim

Synonyms

HHF3 [EXACT]

hyperinsulinemic hypoglycemia due to glucokinase deficiency [EXACT]

hyperinsulinism due to glucokinase deficiency [EXACT]

Parent Relationships

is_a hyperinsulinemic hypoglycemia

is_a autosomal dominant disease

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