Metadata | |
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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 | |
Subsets |
DO_rare_slim |
Synonyms |
HHF3 [EXACT] hyperinsulinemic hypoglycemia due to glucokinase deficiency [EXACT] hyperinsulinism due to glucokinase deficiency [EXACT] |
Parent Relationships |