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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:0112263 term browser browse the term
Definition:An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in AKT2 on chromosome 19q13.2. (DO)
Synonyms:exact_synonym: HIHGHH;   HYPOINSULINEMIC HYPOGLYCEMIA AND HEMIHYPERTROPHY;   hypoinsulinemic hypoglycemia and body hemihypertrophy
 primary_id: OMIM:240900
 alt_id: DOID:9001032
 xref: ORDO:293964
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 ISO ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and body hemihypertrophy OMIM
ClinVar		 PMID:21979934 NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        inherited metabolic disorder 4644
          hypoinsulinemic hypoglycemia with hemihypertrophy 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          inherited metabolic disorder 4644
            carbohydrate metabolic disorder 2558
              glucose metabolism disease 1871
                hypoglycemia 44
                  hypoinsulinemic hypoglycemia with hemihypertrophy 1
paths to the root