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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:familial hyperinsulinemic hypoglycemia 2
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Accession:DOID:0070218 term browser browse the term
Definition:A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1. (DO)
Synonyms:exact_synonym: HHF2;   autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
 primary_id: OMIM:601820


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familial hyperinsulinemic hypoglycemia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2 ClinVar PMID:9867219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 More... NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2 ClinVar
OMIM		 PMID:7847376 PMID:8897013 PMID:8923010 PMID:9356020 PMID:9867219 More... NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      hyperinsulinism 640
        Congenital Hyperinsulinism 58
          hyperinsulinemic hypoglycemia 55
            familial hyperinsulinemic hypoglycemia 2 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          inherited metabolic disorder 6256
            carbohydrate metabolic disorder 3309
              glucose metabolism disease 2114
                hypoglycemia 95
                  Congenital Hyperinsulinism 58
                    hyperinsulinemic hypoglycemia 55
                      familial hyperinsulinemic hypoglycemia 2 2
paths to the root