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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 Familial Neonatal Seizures, 1
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Accession:DOID:9000419 term browser browse the term
Synonyms:exact_synonym: BFNS1;   SEIZURES, BENIGN FAMILIAL NEONATAL, 1
 broad_synonym: KCNQ2-RELATED CONDITION
 related_synonym: Benign familial neonatal convulsions 1, and/or myokymia;   Benign familial neonatal seizures 1, and/or myokymia;   CONTINUOUS SPIKE AND WAVES DURING SLOW-WAVE SLEEP SYNDROME;   EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA
 alt_id: DOID:9008347
 xref: MESH:C567743;   MESH:C567744;   MIM:121200;   MONDO:0007365


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Benign Familial Neonatal Seizures, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 ClinVar NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: KCNQ2-related condition | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia OMIM
ClinVar		 PMID:2847176 PMID:3360469 PMID:4055306 PMID:7980108 PMID:9425895 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    syndrome 11271
      electroclinical syndrome 1510
        neonatal period electroclinical syndrome 1089
          benign familial neonatal epilepsy 10
            Benign Familial Neonatal Seizures, 1 2
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        central nervous system disease 12608
          brain disease 11837
            epilepsy 2995
              electroclinical syndrome 1510
                neonatal period electroclinical syndrome 1089
                  benign neonatal seizures 16
                    Benign Neonatal Epilepsy, 1 2
                      Benign Familial Neonatal Seizures, 1 2
paths to the root