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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 seizures
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Accession:DOID:14264 term browser browse the term
Definition:A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion. (DO)
Synonyms:exact_synonym: Benign Neonatal Convulsion;   Benign Neonatal Epilepsies;   Benign Neonatal Non Familial Convulsions;   Benign Neonatal-Infantile Epilepsies;   Benign Neonatal-Infantile Epilepsy;   NEONATAL SEIZURE;   benign neonatal convulsions;   benign neonatal epilepsy;   benign neonatal nonfamilial epilepsy;   neonatal seizures;   non familial benign neonatal epilepsy
 primary_id: MESH:D020936
 xref: NCI:C84593;   OMIM:PS121200;   ORDO:1949
For additional species annotation, visit the Alliance of Genome Resources.



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benign neonatal seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO ClinVar Annotator: match by term: neonatal seizures ClinVar PMID:16199547 PMID:16491085 PMID:20554659 PMID:21733724 PMID:25741868 More... NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO RGD PMID:12953268 RGD:1358436 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
JBrowse link
G Ccn4 cellular communication network factor 4 ISO ClinVar Annotator: match by term: Benign neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 7:98,645,238...98,677,253
Ensembl chr 7:98,645,182...98,677,248
JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Neonatal seizure ClinVar NCBI chr18:29,669,659...29,769,044
Ensembl chr18:29,669,659...29,769,172
JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Benign neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Benign neonatal seizures
CTD
ClinVar
PMID:18625963 PMID:19380078 PMID:19464834 PMID:26910900 PMID:28492532 NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISS
ISO
OMIM:121200 | OMIM:121201 | OMIM:269720
ClinVar Annotator: match by term: Benign Neonatal Epilepsy | ClinVar Annotator: match by term: Benign neonatal seizures
MouseDO
ClinVar
PMID:9536098 PMID:14534157 PMID:16199547 PMID:16235065 PMID:16883520 More... NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO ClinVar Annotator: match by term: Benign neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
JBrowse link
G Phf20l1 PHD finger protein 20-like 1 ISO ClinVar Annotator: match by term: Benign neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 7:98,330,580...98,396,526
Ensembl chr 7:98,330,580...98,396,526
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: neonatal seizures ClinVar PMID:16919951 PMID:21550804 PMID:25741868 PMID:28492532 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Benign Neonatal Epilepsy ClinVar PMID:20371507 PMID:25741868 PMID:28379373 PMID:28492532 PMID:30619928 More... NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
JBrowse link
G Sla src-like adaptor ISO ClinVar Annotator: match by term: Benign neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648
JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: Benign neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
JBrowse link
G Tmem71 transmembrane protein 71 ISO ClinVar Annotator: match by term: Benign neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 7:98,276,975...98,323,161
Ensembl chr 7:98,276,975...98,315,858
JBrowse link
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 NCBI chr11:68,114,725...68,154,254
Ensembl chr11:68,114,726...68,154,009
JBrowse link
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: Seizures, benign familial neonatal, 1 | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia OMIM
ClinVar
PMID:3360469 PMID:7980108 PMID:9425895 PMID:9430594 PMID:9536098 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
Benign Familial Neonatal Seizures, 2 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 ISO ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2 ClinVar PMID:12742592 PMID:15249611 PMID:17129708 PMID:18625963 PMID:19464834 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO DNA:missense mutation:cds:p.G263V (human)
DNA:missense mutation:cds:p.W309R (human)
ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2
OMIM
ClinVar
RGD
PMID:1859177 PMID:9425900 PMID:9536098 PMID:10852552 PMID:14534157 More... RGD:9686418, RGD:9686433 NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
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 ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal, 1, and/or myokymia ClinVar PMID:24375629 PMID:25741868 NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
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 ISO ClinVar Annotator: match by term: Benign Neonatal Epilepsy 1 ClinVar PMID:3360469 PMID:9425895 PMID:9536098 PMID:9872318 PMID:11175290 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 18256
    syndrome 9802
      electroclinical syndrome 1029
        neonatal period electroclinical syndrome 793
          benign neonatal seizures 16
            Autosomal Recessive Infantile Epilepsy 1
            Benign Familial Neonatal Seizures, 1 2
            Benign Familial Neonatal Seizures, 2 2
            Benign Familial Neonatal Seizures, 3 0
            Benign Neonatal Epilepsy, 1 + 1
            Benign Neonatal Epilepsy, Autosomal Recessive 0
            Myokymia with Neonatal Epilepsy 0
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        central nervous system disease 11414
          brain disease 10710
            epilepsy 2692
              electroclinical syndrome 1029
                neonatal period electroclinical syndrome 793
                  benign neonatal seizures 16
                    Autosomal Recessive Infantile Epilepsy 1
                    Benign Familial Neonatal Seizures, 1 2
                    Benign Familial Neonatal Seizures, 2 2
                    Benign Familial Neonatal Seizures, 3 0
                    Benign Neonatal Epilepsy, 1 + 1
                    Benign Neonatal Epilepsy, Autosomal Recessive 0
                    Myokymia with Neonatal Epilepsy 0
paths to the root