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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 92
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Accession:DOID:0080471 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34. (DO)
Synonyms:exact_synonym: DEE92;   IECEE2;   infantile or early childhood epileptic encephalopathy 2
 primary_id: OMIM:617829
For additional species annotation, visit the Alliance of Genome Resources.



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developmental and epileptic encephalopathy 92 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood 2
ClinVar
OMIM
PMID:25124326 PMID:25741868 PMID:27789573 PMID:28492532 PMID:29100083 NCBI chr10:26,936,592...27,156,141
Ensembl chr10:26,936,551...27,151,251
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    syndrome 8267
      electroclinical syndrome 712
        developmental and epileptic encephalopathy 544
          developmental and epileptic encephalopathy 92 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        central nervous system disease 10506
          brain disease 9870
            epilepsy 2182
              Generalized Epilepsy 285
                idiopathic generalized epilepsy 159
                  childhood onset epileptic encephalopathy 21
                    developmental and epileptic encephalopathy 92 1
paths to the root