Term Name: | familial hyperinsulinemic hypoglycemia 1 |
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Synonyms: | HHF1 |
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. |
Ontology: | Human Disease [DOID:0070219] ( DOID:0070219 ) |