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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
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Accession:DOID:0050793 term browser browse the term
Definition:A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. (DO)
Synonyms:narrow_synonym: SHORT QT SYNDROME 4;   SHORT QT SYNDROME 5
 primary_id: MESH:C580439
 xref: EFO:0004690;   MONDO:0000453;   NCI:C71060;   OMIM:PS609620

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show annotations for term's descendants           Sort by:
short QT syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Short QT Syndrome 4 | ClinVar Annotator: match by term: Short QT syndrome ClinVar PMID:20031608 PMID:20817017 PMID:22840528 PMID:23861362 PMID:25447171 More... NCBI chrNW_004955454:4,573,647...5,199,046
Ensembl chrNW_004955454:4,490,923...5,198,506 		JBrowse link
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: Short QT syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955410:3,544,398...3,963,582
Ensembl chrNW_004955410:3,619,740...3,964,239 		JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Short QT Syndrome 5 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955429:9,642,725...9,966,175
Ensembl chrNW_004955429:9,644,053...9,966,175 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Short QT syndrome ClinVar PMID:11173780 PMID:12925462 PMID:14676148 PMID:15828882 PMID:18692916 More... NCBI chrNW_004955491:5,391,444...5,422,241
Ensembl chrNW_004955491:5,391,384...5,422,241 		JBrowse link
G Kcnj2 potassium inwardly rectifying channel subfamily J member 2 ISO ClinVar Annotator: match by term: Short QT syndrome ClinVar PMID:8078584 PMID:15761194 PMID:17640933 PMID:22308236 PMID:22371365 More... NCBI chrNW_004955478:2,734,795...2,745,217
Ensembl chrNW_004955478:2,734,795...2,745,217 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Short QT syndrome ClinVar PMID:9536098 PMID:11278406 PMID:15051636 PMID:15159330 PMID:17576681 More... NCBI chrNW_004955422:14,212,563...14,544,556
Ensembl chrNW_004955422:14,212,553...14,544,556 		JBrowse link
G Trpm4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Short QT syndrome ClinVar PMID:25741868 NCBI chrNW_004955559:1,539,036...1,581,800
Ensembl chrNW_004955559:1,546,365...1,581,712 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Short QT syndrome ClinVar PMID:25741868 NCBI chrNW_004955437:17,812,998...17,920,253
Ensembl chrNW_004955437:17,813,007...17,920,253 		JBrowse link
Short QT Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: KCNH2-related condition | ClinVar Annotator: match by term: KCNH2-related disorders | ClinVar Annotator: match by term: Short QT syndrome type 1 OMIM
ClinVar		 PMID:260666 PMID:2294929 PMID:2870438 PMID:7889573 PMID:8700910 More... NCBI chrNW_004955491:5,391,444...5,422,241
Ensembl chrNW_004955491:5,391,384...5,422,241 		JBrowse link
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 term: Short QT syndrome type 2 OMIM
ClinVar		 PMID:234416 PMID:234515 PMID:1346223 PMID:1467812 PMID:1984130 More... NCBI chrNW_004955422:14,212,563...14,544,556
Ensembl chrNW_004955422:14,212,553...14,544,556 		JBrowse link
Short QT Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj2 potassium inwardly rectifying channel subfamily J member 2 ISO ClinVar Annotator: match by term: Short QT syndrome type 3 OMIM
ClinVar		 PMID:8078584 PMID:10206975 PMID:10318782 PMID:11371347 PMID:11841151 More... NCBI chrNW_004955478:2,734,795...2,745,217
Ensembl chrNW_004955478:2,734,795...2,745,217 		JBrowse link
Short QT Syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a3 solute carrier family 4 member 3 ISO ClinVar Annotator: match by term: SLC4A3-related condition | ClinVar Annotator: match by term: Short QT syndrome 7 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29167417 NCBI chrNW_004955453:13,846,444...13,859,707
Ensembl chrNW_004955453:13,843,556...13,859,705 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14206
    syndrome 9376
      short QT syndrome 9
        Short QT Syndrome 1 1
        Short QT Syndrome 2 1
        Short QT Syndrome 3 1
        Short QT Syndrome 7 1
Path 2
Term Annotations click to browse term
  disease 14206
    disease of anatomical entity 13864
      cardiovascular system disease 4081
        heart disease 2837
          heart conduction disease 376
            short QT syndrome 9
              Short QT Syndrome 1 1
              Short QT Syndrome 2 1
              Short QT Syndrome 3 1
              Short QT Syndrome 7 1
paths to the root