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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:Short QT Syndrome 2
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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.


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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:29598884 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    physical disorder 2459
      congenital heart disease 1057
        Short QT Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        Congenital Abnormalities 4716
          Cardiovascular Abnormalities 1109
            congenital heart disease 1057
              Short QT Syndrome 2 1
paths to the root