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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:early infantile epileptic encephalopathy 82
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Accession:DOID:0080715 term browser browse the term
Definition:An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21. (DO)
Synonyms:exact_synonym: DEE82;   EIEE82;   GOT2 deficiency;   deficiency of mitochondrial glutamate oxaloacetate transaminase;   developmental and epileptic encephalopathy 82
 primary_id: OMIM:618721
For additional species annotation, visit the Alliance of Genome Resources.


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early infantile epileptic encephalopathy 82 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Got2 glutamic-oxaloacetic transaminase 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82 OMIM
ClinVar
PMID:25741868 PMID:31422819 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      electroclinical syndrome 392
        neonatal period electroclinical syndrome 255
          early infantile epileptic encephalopathy 246
            early infantile epileptic encephalopathy 82 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            epilepsy 1485
              electroclinical syndrome 392
                neonatal period electroclinical syndrome 255
                  early infantile epileptic encephalopathy 246
                    early infantile epileptic encephalopathy 82 1
paths to the root