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familial hyperinsulinemic hypoglycemia 6 - Ontology Report - Rat Genome Database

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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 6
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Accession:DOID:0070217 term browser browse the term
Definition:A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3. (DO)
Synonyms:exact_synonym: GLUD1-RELATED CONDITION;   HHF6;   HI/HA syndrome;   hyperinsulinism-hyperammonemia syndrome
 primary_id: MESH:C538375
 alt_id: MIM:606762
 xref: GARD:9931;   ORDO:35878

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show annotations for term's descendants           Sort by:
familial hyperinsulinemic hypoglycemia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glud1 glutamate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GLUD1-related condition | ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome		 OMIM
CTD
ClinVar		 PMID:9469993 PMID:9536098 PMID:9571225 PMID:9571255 PMID:9843361 More... NCBI chr16:9,646,569...9,680,215
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:9,554,921...9,646,186
Ensembl chr16:9,548,660...9,639,965 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      hyperinsulinism 640
        Congenital Hyperinsulinism 58
          hyperinsulinemic hypoglycemia 55
            familial hyperinsulinemic hypoglycemia 6 2
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          inherited metabolic disorder 6628
            carbohydrate metabolic disorder 3419
              glucose metabolism disease 2164
                hyperinsulinism 640
                  Congenital Hyperinsulinism 58
                    hyperinsulinemic hypoglycemia 55
                      familial hyperinsulinemic hypoglycemia 6 2
paths to the root