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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 3
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Accession:DOID:0070216 term browser browse the term
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. (DO)
Synonyms:exact_synonym: HHF3;   hyperinsulinemic hypoglycemia due to glucokinase deficiency;   hyperinsulinism due to glucokinase deficiency
 primary_id: MESH:C538374
 alt_id: OMIM:602485
 xref: GARD:2818;   ORDO:79299


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familial hyperinsulinemic hypoglycemia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gck glucokinase ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:602485
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 3 | ClinVar Annotator: match by term: Hyperinsulinism due to glucokinase deficiency		 OMIM
CTD
MouseDO
ClinVar		 PMID:1502186 PMID:2555564 PMID:7553875 PMID:7555485 PMID:8068341 More... NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      hyperinsulinism 597
        Congenital Hyperinsulinism 12
          hyperinsulinemic hypoglycemia 9
            familial hyperinsulinemic hypoglycemia 3 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            carbohydrate metabolic disorder 3267
              glucose metabolism disease 2071
                hyperinsulinism 597
                  Congenital Hyperinsulinism 12
                    hyperinsulinemic hypoglycemia 9
                      familial hyperinsulinemic hypoglycemia 3 1
paths to the root