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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:developmental and epileptic encephalopathy 82
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Accession:DOID:0080715 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay 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;   early infantile epileptic encephalopathy 82
 primary_id: OMIM:618721


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developmental and epileptic encephalopathy 82 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GOT2 glutamic-oxaloacetic transaminase 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 82
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31422819 NCBI chr16:58,707,131...58,734,316
Ensembl chr16:58,707,131...58,734,342 		JBrowse link
G LOC126862363 BRD4-independent group 4 enhancer GRCh37_chr16:58751959-58753158 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 82 ClinVar PMID:25741868 NCBI chr16:58,718,055...58,719,254 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    syndrome 18145
      electroclinical syndrome 1766
        developmental and epileptic encephalopathy 1321
          developmental and epileptic encephalopathy 82 2
Path 2
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      nervous system disease 26373
        central nervous system disease 23608
          brain disease 22047
            epilepsy 3694
              electroclinical syndrome 1766
                neonatal period electroclinical syndrome 1282
                  early infantile epileptic encephalopathy 1257
                    developmental and epileptic encephalopathy 82 2
paths to the root