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
go back to main search page
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, PMID:25633834, PMID:25741868, PMID:28492532 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
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 4:15,706,974...16,130,848
Ensembl chr 4:15,710,417...16,130,848
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 chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
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, PMID:19088443, PMID:19174314, PMID:19340359, PMID:19439805, PMID:19501051, PMID:21130771, PMID:22194679, PMID:22581653 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
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:15761194, PMID:22308236, PMID:22581653, PMID:28492532 NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
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, PMID:19841300, PMID:20436212, PMID:21185501, PMID:22199116, PMID:22378279, PMID:22581653, PMID:22949429, PMID:23571586, PMID:24033266, PMID:24190995, PMID:25637381, PMID:25649125, PMID:25741868, PMID:25854863, PMID:25985138, PMID:26159999, PMID:26318259, PMID:28492532, PMID:28988457, PMID:29197658, PMID:30615648, PMID:31696929 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
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 chr17:82,020,316...82,060,533
Ensembl chr17:82,022,490...82,060,123
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 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
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:10483966, PMID:10862094, PMID:10973849, PMID:11173780, PMID:11468227, PMID:11668638, PMID:11854117, PMID:12925462, PMID:14661677, PMID:14676148, PMID:15051636, PMID:15828882, PMID:15840476, PMID:16414944, PMID:16432067, PMID:17905336, PMID:18724381, PMID:18776039, PMID:18808722, PMID:19088443, PMID:19439805, PMID:19490267, PMID:19501051, PMID:19716085, PMID:19841300, PMID:19862833, PMID:20659946, PMID:22194679, PMID:22573844, PMID:22581653, PMID:22677073, PMID:22949429, PMID:23098067, PMID:23303164, PMID:23861362, PMID:24033266, PMID:24606995, PMID:25417810, PMID:25649125, PMID:25741868, PMID:26063740, PMID:26164358, PMID:26187847, PMID:26496715, PMID:26743238, PMID:26958806, PMID:28431243, PMID:28492532, PMID:28988457, PMID:29574456, PMID:29752375, PMID:30246897, PMID:30758498, PMID:30996762 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
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, 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
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:15761194, PMID:15922306, PMID:16217063, PMID:16818210, PMID:17211524, PMID:19041665, PMID:19111761, PMID:22308236, PMID:22581653, PMID:22589293, PMID:22806368, PMID:23516313, PMID:23631430, PMID:23644778, PMID:23867365, PMID:24861851, PMID:25410959, PMID:25741868, PMID:25847018, PMID:26467025, PMID:28003625, PMID:28341588, PMID:28492532, PMID:29874177 NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      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 16058
    disease of anatomical entity 15305
      cardiovascular system disease 4454
        heart disease 2664
          heart conduction disease 300
            short QT syndrome 8
              Short QT Syndrome 1 1
              Short QT Syndrome 2 1
              Short QT Syndrome 3 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.