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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:Hypoinsulinemic Hypoglycemia with Hemihypertrophy
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Accession:DOID:9001032 term browser browse the term
Synonyms:exact_synonym: HIHGHH;   HYPOINSULINEMIC HYPOGLYCEMIA AND HEMIHYPERTROPHY
 primary_id: OMIM:240900;   RDO:9000465
For additional species annotation, visit the Alliance of Genome Resources.


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Hypoinsulinemic Hypoglycemia with Hemihypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT2 AKT serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and hemihypertrophy ClinVar
OMIM
PMID:21979934 NCBI chr19:40,230,317...40,285,531
Ensembl chr19:40,230,317...40,285,536
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18836
    Nutritional and Metabolic Diseases 5127
      disease of metabolism 5127
        glucose metabolism disease 1598
          hypoglycemia 45
            Hypoinsulinemic Hypoglycemia with Hemihypertrophy 1
Path 2
Term Annotations click to browse term
  disease 18836
    Nutritional and Metabolic Diseases 5127
      disease of metabolism 5127
        acquired metabolic disease 3160
          carbohydrate metabolism disease 1598
            glucose metabolism disease 1598
              hypoglycemia 45
                Hypoinsulinemic Hypoglycemia with Hemihypertrophy 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.