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ONTOLOGY REPORT - ANNOTATIONS


Term:familial hyperinsulinemic hypoglycemia 1
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Accession:DOID:0070219 term browser browse the term
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. (DO)
Synonyms:exact_synonym: HHF1
 primary_id: OMIM:256450
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familial hyperinsulinemic hypoglycemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link 1 102,110,708 102,191,287 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    syndrome 4713
      hyperinsulinism 552
        Congenital Hyperinsulinism 11
          hyperinsulinemic hypoglycemia 8
            familial hyperinsulinemic hypoglycemia 1 1
Path 2
Term Annotations click to browse term
  disease 14924
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        acquired metabolic disease 2675
          carbohydrate metabolism disease 1739
            glucose metabolism disease 1739
              hypoglycemia 42
                Congenital Hyperinsulinism 11
                  hyperinsulinemic hypoglycemia 8
                    familial hyperinsulinemic hypoglycemia 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.