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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:Sinus Arrhythmia
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Accession:DOID:9002907 term browser browse the term
Definition:Irregular HEART RATE caused by abnormal function of the SINOATRIAL NODE. It is characterized by a greater than 10% change between the maximum and the minimum sinus cycle length or 120 milliseconds.
Synonyms:exact_synonym: Sinoatrial Arrhythmia;   Sinoatrial Arrhythmias;   Sinus Arrhythmias
 primary_id: MESH:D001146
 alt_id: RDO:0004907
For additional species annotation, visit the Alliance of Genome Resources.


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sick sinus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO DNA:SNP:promoter:-6G>A (human) RGD PMID:22242192 RGD:8548870 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
JBrowse link
G Ank2 ankyrin 2 susceptibility ISO RGD PMID:15178757 RGD:1599114 NCBI chrNW_004955457:13,624,590...13,938,427
Ensembl chrNW_004955457:13,624,413...14,076,261
JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD PMID:26831068 NCBI chrNW_004955430:3,450,151...3,796,983
Ensembl chrNW_004955430:3,268,953...3,794,592
JBrowse link
G Kcnj5 potassium inwardly rectifying channel subfamily J member 5 ISO CTD Direct Evidence: therapeutic CTD PMID:26831068 NCBI chrNW_004955412:29,850,097...29,874,213
Ensembl chrNW_004955412:29,850,097...29,874,213
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19039989 NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Sick sinus syndrome
ClinVar Annotator: match by term: Sinus node disease
ClinVar PMID:10377081 PMID:10727653 PMID:10961955 PMID:10973849 PMID:11901046 PMID:12877697 PMID:14523039 PMID:15840476 PMID:16379539 PMID:16453024 PMID:18451998 PMID:18452873 PMID:18508782 PMID:19716085 PMID:19841300 PMID:20110800 PMID:20129283 PMID:20384651 PMID:20448214 PMID:20539757 PMID:21321465 PMID:22090166 PMID:22370247 PMID:22581653 PMID:23631430 PMID:24033266 PMID:24762805 PMID:24784157 PMID:24871449 PMID:25348405 PMID:25741868 PMID:25904541 PMID:26467025 PMID:27381756 PMID:28492532 PMID:28781849 NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552
JBrowse link
G Snta1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Sick sinus syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955422:27,844,699...27,872,104
Ensembl chrNW_004955422:27,844,853...27,871,547
JBrowse link
Sick Sinus Syndrome 1, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO OMIM NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552
JBrowse link
Sick Sinus Syndrome 2, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO OMIM NCBI chrNW_004955450:4,139,852...4,181,377
Ensembl chrNW_004955450:4,139,852...4,181,377
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12678
    Pathological Conditions, Signs and Symptoms 8328
      Pathologic Processes 5667
        Cardiac Arrhythmias 556
          Sinus Arrhythmia 8
            Sinus Arrest, Cardiac 0
            sick sinus syndrome + 8
Path 2
Term Annotations click to browse term
  disease 12678
    disease of anatomical entity 12356
      cardiovascular system disease 3219
        heart disease 2237
          Cardiac Arrhythmias 556
            Sinus Arrhythmia 8
              Sinus Arrest, Cardiac 0
              sick sinus syndrome + 8
paths to the root