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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:sudden infant death syndrome
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Accession:DOID:9007 term browser browse the term
Definition:A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation. (DO)
Synonyms:exact_synonym: SID;   SIDS;   cot death;   cot deaths;   crib death;   sudden death of nonspecific cause in infancy;   sudden infant death
 primary_id: MESH:D013398
 alt_id: MIM:272120
 xref: EFO:0005303;   GARD:7711;   ICD9CM:798.0;   NCI:C85173

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sudden infant death syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap10 A-kinase anchoring protein 10 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 NCBI chrNW_004955467:919,207...990,753
Ensembl chrNW_004955467:926,508...990,753 		JBrowse link
G Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 NCBI chrNW_004955490:4,069,866...4,140,494
Ensembl chrNW_004955490:4,069,494...4,140,532 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595 		JBrowse link
G Calm2 calmodulin 2 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar NCBI chrNW_004955441:13,973,147...13,988,665
Ensembl chrNW_004955574:672,300...680,924
Ensembl chrNW_004955438:672,300...680,924 		JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:12666119 PMID:15580566 PMID:25741868 PMID:28492532 PMID:35027292 NCBI chrNW_004955561:326,008...335,911
Ensembl chrNW_004955561:325,944...335,914 		JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000980 NCBI chrNW_004955416:30,687,518...30,798,700
Ensembl chrNW_004955416:30,687,478...30,798,700 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000980 NCBI chrNW_004955545:1,065,457...1,077,056
Ensembl chrNW_004955545:1,065,457...1,077,526 		JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 NCBI chrNW_004955455:5,881,631...6,005,514
Ensembl chrNW_004955455:5,881,691...6,003,035 		JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 NCBI chrNW_004955407:36,456,628...36,588,940
Ensembl chrNW_004955407:36,453,098...36,589,382 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chrNW_004955479:9,633,817...9,661,725
Ensembl chrNW_004955479:9,633,598...9,661,777 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:11742254 PMID:12189488 PMID:25741868 PMID:28492532 NCBI chrNW_004955533:2,879,437...2,938,952
Ensembl chrNW_004955533:2,573,599...2,938,952 		JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 More... NCBI chrNW_004955430:23,481,957...23,536,407
Ensembl chrNW_004955430:23,481,957...23,539,495 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 PMID:28492532 PMID:30461122 PMID:35027292 PMID:38816749 NCBI chrNW_004955407:33,807,581...33,814,356
Ensembl chrNW_004955407:33,807,581...33,814,356 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:15913580 PMID:17210839 PMID:18222468 PMID:18596570 PMID:18675227 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: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 PMID:28341588 PMID:28492532 PMID:29874177 NCBI chrNW_004955478:2,734,795...2,745,217
Ensembl chrNW_004955478:2,734,795...2,745,217 		JBrowse link
G Kcnj8 potassium inwardly rectifying channel subfamily J member 8 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955413:17,364,447...17,371,255
Ensembl chrNW_004955413:17,364,213...17,371,255 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar Annotator: match by term: Sudden Infant Death		 ClinVar PMID:15913580 PMID:16534005 PMID:17210839 PMID:17222736 PMID:17470695 More... NCBI chrNW_004955422:14,212,563...14,544,556
Ensembl chrNW_004955422:14,212,553...14,544,556 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:9048664 PMID:9562578 PMID:11499718 PMID:11499719 PMID:12707239 More... NCBI chrNW_004955422:888,529...902,074
Ensembl chrNW_004955422:888,589...901,725 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:12666119 PMID:15580566 PMID:25741868 PMID:28492532 PMID:35027292 NCBI chrNW_004955561:340,387...354,499
Ensembl chrNW_004955561:337,902...354,336 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:8962591 PMID:20002125 PMID:20002461 PMID:24718837 PMID:25741868 More... NCBI chrNW_004955586:98,492...114,927
Ensembl chrNW_004955586:97,172...114,928 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 PMID:28492532 PMID:29601086 NCBI chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951 		JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155597 NCBI chrNW_004955468:4,375,517...4,383,383
Ensembl chrNW_004955468:4,375,157...4,383,502 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 NCBI chrNW_004955478:7,861,585...7,906,192
Ensembl chrNW_004955478:7,861,585...7,906,192 		JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:20226894 PMID:23465283 PMID:23861362 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955412:19,312,697...19,330,913
Ensembl chrNW_004955412:19,311,797...19,331,201 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar Annotator: match by term: Sudden Infant Death ClinVar
OMIM		 PMID:291807 PMID:461398 PMID:1309946 PMID:2030070 PMID:8661019 More... NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO CTD Direct Evidence: marker/mechanism
OMIM:272120		 CTD
MouseDO		 PMID:12599191 NCBI chrNW_004955481:3,088,440...3,122,421
Ensembl chrNW_004955481:3,088,416...3,125,711 		JBrowse link
G Snta1 syntrophin alpha 1 susceptibility ISO DNA:missense mutations:cds:multiple RGD PMID:20009079 RGD:6771369 NCBI chrNW_004955422:27,844,699...27,872,104
Ensembl chrNW_004955422:27,844,853...27,871,547 		JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:25741868 NCBI chrNW_004955402:39,735,596...40,066,151
Ensembl chrNW_004955402:39,735,600...40,066,151 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar Annotator: match by term: Sudden Infant Death ClinVar PMID:9241277 PMID:10098965 PMID:11735257 PMID:12531876 PMID:12707239 More... NCBI chrNW_004955567:1,037,325...1,042,102
Ensembl chrNW_004955567:1,037,462...1,042,039 		JBrowse link
G Tspyl1 TSPY like 1 ISO sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800 RGD PMID:15273283 RGD:1599672 NCBI chrNW_004955526:539,178...552,120 JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:17344846 PMID:22335739 PMID:23975875 PMID:24033266 PMID:25589632 More... NCBI chrNW_004955403:18,057,344...18,328,389 JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:cerebrospinal fluid RGD PMID:12563064 RGD:634255 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO OMIM:272120 MouseDO NCBI chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511 		JBrowse link
Sudden Infant Death with Dysgenesis of the Testes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Sudden infant death with dysgenesis of the testes syndrome | ClinVar Annotator: match by term: TSPYL1-related condition ClinVar PMID:15273283 PMID:25741868 PMID:28492532 NCBI chrNW_004955526:348,673...393,328
Ensembl chrNW_004955526:348,519...392,507 		JBrowse link
G Tspyl1 TSPY like 1 ISO ClinVar Annotator: match by term: Sudden infant death with dysgenesis of the testes syndrome | ClinVar Annotator: match by term: TSPYL1-related condition OMIM
ClinVar		 PMID:15273283 PMID:25741868 PMID:28492532 NCBI chrNW_004955526:539,178...552,120 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    syndrome 9815
      sudden infant death syndrome 35
        Sudden Infant Death with Dysgenesis of the Testes Syndrome 2
Path 2
Term Annotations click to browse term
  disease 14336
    Pathological Conditions, Signs and Symptoms 11321
      Pathologic Processes 7188
        Death 161
          Infant Death 41
            sudden infant death syndrome 35
              Sudden Infant Death with Dysgenesis of the Testes Syndrome 2
paths to the root