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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
 alt_id: RDO:0015924
 xref: NCI:C71060;   OMIM:PS609620
For additional species annotation, visit the Alliance of Genome Resources.



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 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 ISO
ISS
ClinVar Annotator: match by term: short QT syndrome
OMIM:609620 | OMIM:609621 | OMIM:609622
ClinVar
MouseDO
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
ISS
ClinVar Annotator: match by term: short QT syndrome
OMIM:609620 | OMIM:609621 | OMIM:609622
ClinVar
MouseDO
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
ISS
ClinVar Annotator: match by term: short QT syndrome
OMIM:609620 | OMIM:609621 | OMIM:609622
ClinVar
MouseDO
PMID:11278406 PMID:15051636 PMID:15159330 PMID:17470695 PMID:19716085 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Short QT Syndrome 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:77,912,374...77,955,694
Ensembl chr17:77,912,377...77,950,006
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: short QT syndrome ClinVar 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 ClinVar Annotator: match by OMIM:609620
ClinVar Annotator: match by term: Short QT syndrome 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9544837 PMID:10220144 PMID:10483966 PMID:10862094 PMID:10973849 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 2
ClinVar Annotator: match by OMIM:609621
OMIM
ClinVar
PMID:2294929 PMID:9641694 PMID:9799083 PMID:9927399 PMID:10482963 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 3 OMIM
ClinVar
PMID:8078584 PMID:15761194 PMID:15922306 PMID:16217063 PMID:16818210 More... NCBI chr10:96,060,849...96,071,401
Ensembl chr10:96,060,821...96,071,445
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    syndrome 8125
      short QT syndrome 8
        Short QT Syndrome 1 1
        Short QT Syndrome 2 1
        Short QT Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      cardiovascular system disease 4514
        heart disease 2691
          heart conduction disease 299
            short QT syndrome 8
              Short QT Syndrome 1 1
              Short QT Syndrome 2 1
              Short QT Syndrome 3 1
paths to the root