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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: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:30122538 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 16123
    syndrome 7053
      long QT syndrome 249
        Romano-Ward Syndrome 13
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal dominant disease 3160
                Romano-Ward Syndrome 13
paths to the root