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Benign Familial Neonatal Seizures, 1 - Ontology Report - Rat Genome Database

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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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show annotations for term's descendants           Sort by:
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 1:89,700,645...89,729,782
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:2753503 PMID:2847176 PMID:3360469 PMID:4055306 PMID:7980108 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 19140
    syndrome 11403
      electroclinical syndrome 1518
        neonatal period electroclinical syndrome 1098
          benign familial neonatal epilepsy 10
            Benign Familial Neonatal Seizures, 1 2
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          brain disease 11858
            epilepsy 2935
              electroclinical syndrome 1518
                neonatal period electroclinical syndrome 1098
                  benign neonatal seizures 16
                    Benign Neonatal Epilepsy, 1 2
                      Benign Familial Neonatal Seizures, 1 2
paths to the root