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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 OMIM NCBI chr 1:84,400,939...84,451,223
Ensembl chr 1:84,411,726...84,450,162 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Nutritional and Metabolic Diseases 5514
      disease of metabolism 5514
        inherited metabolic disorder 2607
          hypoinsulinemic hypoglycemia with hemihypertrophy 1
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          monogenic disease 7121
            autosomal genetic disease 6276
              autosomal dominant disease 4450
                hypoinsulinemic hypoglycemia with hemihypertrophy 1
paths to the root