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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:Romano-Ward Syndrome
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Accession:DOID:9004730 term browser browse the term
Definition:A form of long QT syndrome that is without congenital deafness.
Synonyms:exact_synonym: RWS;   Ventricular Fibrillation with Prolonged QT Interval;   WRS
 primary_id: MESH:D029597
 alt_id: RDO:0002790
For additional species annotation, visit the Alliance of Genome Resources.


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Romano-Ward Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:23861362, PMID:24033266, PMID:24123366, PMID:25467552, PMID:25649125, PMID:25741868, PMID:26743238, PMID:28074886, PMID:28492532, PMID:28750076, PMID:29574703, PMID:30276209 NCBI chr 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
JBrowse link
G Calm2 calmodulin 2 ISO ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:11569915, PMID:23388215, PMID:24917665, PMID:26164367, PMID:26969752, PMID:27165696, PMID:27374306, PMID:27765793, PMID:28492532, PMID:30354306 NCBI chr 6:11,067,675...11,080,078
Ensembl chr15:65,506,874...65,507,968
JBrowse link
G Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:11569915, PMID:23388215, PMID:24563457, PMID:24816216, PMID:24958779, PMID:26969752, PMID:28492532 NCBI chr 1:78,844,520...78,851,628
Ensembl chr 1:78,843,080...78,851,719
JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:14672715, PMID:15318349, PMID:17556197, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:7828904, PMID:8899564, PMID:9445165, PMID:10807545, PMID:12402336, PMID:14661677, PMID:14760488, PMID:15051636, PMID:15599693, PMID:16132053, PMID:16266404, PMID:16487223, PMID:16823764, PMID:16887036, PMID:16922724, PMID:17016049, PMID:17161064, PMID:17210839, PMID:17597962, PMID:18426444, PMID:19305408, PMID:19695459, PMID:20823649, PMID:21244686, PMID:21712262, PMID:22100668, PMID:22378279, PMID:22581653, PMID:23861362, PMID:24033266, PMID:24400172, PMID:24499369, PMID:25737393, PMID:25741868, PMID:26132555, PMID:26743238, PMID:28003625, PMID:28492532, PMID:29625280, PMID:30311386, PMID:30847666, PMID:30910390, PMID:31308327, PMID:31376648, PMID:9445165 RGD:1580499 NCBI chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:23631430 NCBI chr11:32,434,786...32,447,264
Ensembl chr11:32,440,237...32,447,259
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:15840476, PMID:19841300, PMID:22581653, PMID:22949429, PMID:25417810, PMID:26669661, PMID:28492532 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Romano-Ward syndrome
ClinVar Annotator: match by OMIM:192500
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10560595, PMID:10728423, PMID:10973849, PMID:11668641, PMID:12175777, PMID:12402336, PMID:14661677, PMID:14678125, PMID:14760488, PMID:15004216, PMID:15466642, PMID:15840476, PMID:16132053, PMID:16556865, PMID:16922724, PMID:17161064, PMID:17210839, PMID:17470695, PMID:18752142, PMID:19716085, PMID:19841300, PMID:19862833, PMID:21185501, PMID:21350584, PMID:22199116, PMID:22378279, PMID:22429796, PMID:22581653, PMID:22677073, PMID:22949429, PMID:23098067, PMID:23392653, PMID:23571586, PMID:23861362, PMID:23935525, PMID:24033266, PMID:24190995, PMID:25637381, PMID:25649125, PMID:25741868, PMID:25854863, PMID:25985138, PMID:26159999, PMID:26318259, PMID:26467025, PMID:26498160, PMID:26937405, PMID:28302345, PMID:28360401, PMID:28492532, PMID:28988457, PMID:29197658, PMID:30615648, PMID:31696929, PMID:9312006 RGD:1580509 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 8:49,441,106...49,456,279
Ensembl chr 8:49,441,106...49,456,279
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:10508990, PMID:10807545, PMID:11463728, PMID:11997281, PMID:12193783, PMID:12471205, PMID:12569159, PMID:12639704, PMID:14500339, PMID:14760488, PMID:14985827, PMID:15161528, PMID:15599693, PMID:15689442, PMID:15851227, PMID:15992732, PMID:15996170, PMID:16061744, PMID:16132053, PMID:16155735, PMID:16239976, PMID:16453014, PMID:16453024, PMID:16712702, PMID:16731473, PMID:16922724, PMID:17161064, PMID:17185997, PMID:17210839, PMID:17275750, PMID:17675083, PMID:17892895, PMID:17967976, PMID:17993325, PMID:18088563, PMID:18093912, PMID:18156160, PMID:18362431, PMID:18378609, PMID:18426444, PMID:18452875, PMID:19026623, PMID:19083750, PMID:19302788, PMID:19305408, PMID:19305409, PMID:19841300, PMID:20110800, PMID:20129283, PMID:20403459, PMID:20470418, PMID:20486126, PMID:20875080, PMID:21325150, PMID:21385947, PMID:21498565, PMID:21621375, PMID:22090165, PMID:22090166, PMID:22581653, PMID:22789973, PMID:22984773, PMID:23091201, PMID:23098067, PMID:23861362, PMID:24033266, PMID:24332150, PMID:24951663, PMID:25065297, PMID:25348405, PMID:25741868, PMID:25757662, PMID:25904541, PMID:25923670, PMID:26467025, PMID:27554632, PMID:28492532, PMID:28725320, PMID:29431662, PMID:30364184 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:23861362, PMID:25741868, PMID:28492532, PMID:28837624 NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link
G Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:14672715, PMID:15318349, PMID:17556197, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 4:144,301,913...144,322,197
Ensembl chr 4:144,307,817...144,318,580
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      long QT syndrome 251
        Romano-Ward Syndrome 13
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                Romano-Ward Syndrome 13
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.