Search Ontology:
Human Disease
familial hyperinsulinemic hypoglycemia 3
- Term ID
- DOID:0070216
- Synonyms
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- HHF3
- hyperinsulinemic hypoglycemia due to glucokinase deficiency
- hyperinsulinism due to glucokinase deficiency
- 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. (2)
- References
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- GARD:2818
- MIM:602485
- ORDO:79299
- Ontology
- Human Disease ( DOID:0070216 )
- is a type of
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