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familial hyperinsulinemic hypoglycemia 1
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease autosomal recessive disease hyperinsulinemic hypoglycemia
External Links
- Disease Ontology
- DOID:0070219
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
