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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:Benign Neonatal Epilepsy, 1
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Accession:DOID:9006888 term browser browse the term
Synonyms:exact_synonym: Convulsions, Benign Familial Neonatal, 1
 primary_id: MESH:C565164


show annotations for term's descendants           Sort by:
Benign Neonatal Epilepsy, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ClinVar Annotator: match by term: Benign Neonatal Epilepsy 1 ClinVar PMID:2847176 PMID:3360469 PMID:4055306 PMID:9425895 PMID:9536098 More... NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677 		JBrowse link
Benign Neonatal Epilepsy 1, and/or Myokymia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ClinVar Annotator: match by term: Epilepsy, benign neonatal, 1, and/or myokymia ClinVar PMID:24375629 PMID:25741868 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    syndrome 18145
      electroclinical syndrome 1766
        neonatal period electroclinical syndrome 1282
          benign neonatal seizures 21
            Benign Neonatal Epilepsy, 1 1
              Benign Neonatal Epilepsy 1, and/or Myokymia 1
              Benign Neonatal Epilepsy, 1, Atypical Severe 0
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
                  benign neonatal seizures 21
                    Benign Neonatal Epilepsy, 1 1
                      Benign Neonatal Epilepsy 1, and/or Myokymia 1
                      Benign Neonatal Epilepsy, 1, Atypical Severe 0
paths to the root