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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 chacterized 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
For additional species annotation, visit the Alliance of Genome Resources.



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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 ISO 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 chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    syndrome 9691
      electroclinical syndrome 976
        developmental and epileptic encephalopathy 744
          developmental and epileptic encephalopathy 82 1
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      nervous system disease 13182
        central nervous system disease 11306
          brain disease 10593
            epilepsy 2636
              electroclinical syndrome 976
                neonatal period electroclinical syndrome 740
                  early infantile epileptic encephalopathy 720
                    developmental and epileptic encephalopathy 82 1
paths to the root