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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:Autosomal Recessive Infantile Epilepsy
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Accession:DOID:9004367 term browser browse the term
Synonyms:primary_id: RDO:9000702


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Autosomal Recessive Infantile Epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnk2 tyrosine kinase, non-receptor, 2 ISO ClinVar Annotator: match by term: Autosomal recessive infantile epilepsy ClinVar PMID:23686771 PMID:25741868 PMID:26595808 PMID:28492532 NCBI chr11:68,114,725...68,154,254
Ensembl chr11:68,114,726...68,154,009 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    syndrome 11180
      electroclinical syndrome 1505
        neonatal period electroclinical syndrome 1089
          benign neonatal seizures 16
            Autosomal Recessive Infantile Epilepsy 1
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      nervous system disease 14258
        central nervous system disease 12591
          brain disease 11816
            epilepsy 2984
              electroclinical syndrome 1505
                neonatal period electroclinical syndrome 1089
                  benign neonatal seizures 16
                    Autosomal Recessive Infantile Epilepsy 1
paths to the root