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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


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 chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		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 chr 4:18,950,611...19,374,969
Ensembl chr 4:18,951,002...19,374,969 		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 chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISS
ISO		 OMIM:609620 | OMIM:609621 | OMIM:609622
ClinVar Annotator: match by term: Short QT syndrome		 MouseDO
ClinVar		 PMID:11173780 PMID:12925462 PMID:14676148 PMID:15828882 PMID:18692916 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		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 chr10:96,060,849...96,071,401
Ensembl chr10:96,060,821...96,071,445 		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:17470695 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		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 chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Short QT syndrome type 1		 OMIM
CTD
ClinVar		 PMID:2294929 PMID:2870438 PMID:9536098 PMID:9544837 PMID:10187793 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		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 ClinVar
OMIM		 PMID:1346223 PMID:1467812 PMID:2294929 PMID:8487283 PMID:9312006 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		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:11371347 PMID:11841151 PMID:11861044 PMID:12086641 More... NCBI chr10:96,060,849...96,071,401
Ensembl chr10:96,060,821...96,071,445 		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: Short QT syndrome 7 OMIM
ClinVar		 PMID:29167417 NCBI chr 9:77,036,243...77,053,940
Ensembl chr 9:77,037,016...77,049,105 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      short QT syndrome 8
        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 21086
    disease of anatomical entity 18146
      cardiovascular system disease 5311
        heart disease 3250
          heart conduction disease 391
            short QT syndrome 8
              Short QT Syndrome 1 1
              Short QT Syndrome 2 1
              Short QT Syndrome 3 1
              Short QT Syndrome 7 1
paths to the root