Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:Short QT Syndrome 2
go back to main search page
Accession:DOID:9001050 term browser browse the term
Synonyms:exact_synonym: KCNQ1-related short QT syndrome;   SQT2
 primary_id: MESH:C566505
 alt_id: OMIM:609621;   RDO:0014839
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Short QT Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by OMIM:609621
ClinVar Annotator: match by term: Short QT syndrome 2
OMIM
ClinVar
PMID:2294929, PMID:9641694, PMID:9799083, PMID:9927399, PMID:10482963, PMID:10704188, PMID:10737999, PMID:10807545, PMID:10973849, PMID:11087258, PMID:11278406, PMID:11530100, PMID:11668641, PMID:11761407, PMID:11997281, PMID:12175777, PMID:12402336, PMID:12566525, PMID:12736279, PMID:14510661, PMID:14661676, PMID:14661677, PMID:14678125, PMID:14731347, PMID:14760488, PMID:14998624, PMID:15028050, PMID:15051636, PMID:15159330, PMID:15192825, PMID:15234419, PMID:15242738, PMID:15500450, PMID:15547041, PMID:15840476, PMID:15913580, PMID:15935335, PMID:16038262, PMID:16109388, PMID:16132053, PMID:16155735, PMID:16487223, PMID:16556865, PMID:16556866, PMID:17016049, PMID:17161064, PMID:17210839, PMID:17470695, PMID:17597962, PMID:17999538, PMID:18222468, PMID:18426444, PMID:18599533, PMID:18611041, PMID:18752142, PMID:19490272, PMID:19716085, PMID:19815527, PMID:19841300, PMID:19862833, PMID:20436212, PMID:20851114, PMID:21063070, PMID:21185501, PMID:21215473, PMID:21778721, PMID:21779290, PMID:22250012, PMID:22309168, PMID:22378279, PMID:22539601, PMID:22581653, PMID:22629021, PMID:22677073, PMID:22947121, PMID:22949429, PMID:23098067, PMID:23174487, PMID:23304551, PMID:23375927, PMID:23392653, PMID:23465283, PMID:23571586, PMID:23861362, PMID:23890619, PMID:23935525, PMID:24006450, PMID:24033266, PMID:24052033, PMID:24055113, PMID:24190995, PMID:24284363, PMID:24357532, PMID:24388587, PMID:24552659, PMID:24606995, PMID:24667783, PMID:24762593, PMID:24818999, PMID:24912595, PMID:24920132, PMID:25236808, PMID:25348405, PMID:25351510, PMID:25608792, PMID:25637381, PMID:25649125, PMID:25705178, PMID:25741868, PMID:25854863, PMID:25974115, PMID:26019114, PMID:26077850, PMID:26118460, PMID:26159999, PMID:26168993, PMID:26318259, PMID:26385840, PMID:26467025, PMID:26498160, PMID:26546361, PMID:26669661, PMID:26704558, PMID:26937405, PMID:27041150, PMID:27159321, PMID:27251404, PMID:27451284, PMID:27650965, PMID:27816319, PMID:27831900, PMID:27884173, PMID:28302345, PMID:28360401, PMID:28438721, PMID:28449774, PMID:28492532, PMID:28588847, PMID:28600177, PMID:28704380, PMID:28720088, PMID:28944242, PMID:29197658, PMID:29247119, PMID:29379719, PMID:29740400, PMID:30571187, PMID:31696929, PMID:32238909 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      congenital heart disease 1074
        Short QT Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      cardiovascular system disease 4445
        heart disease 2665
          heart conduction disease 300
            short QT syndrome 8
              Short QT Syndrome 2 1
paths to the root

NHLBI Logo

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