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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:The abrupt and unexplained death of an apparently healthy infant under one year of age, remaining unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the clinical history. (Pediatr Pathol 1991 Sep-Oct;11(5):677-84)
Synonyms:exact_synonym: Cot Deaths;   SID;   SIDS;   cot death;   crib death;   sudden death of nonspecific cause in infancy;   sudden infant death
 primary_id: MESH:D013398
 alt_id: OMIM:272120;   RDO:0006644
 xref: GARD:7711;   ICD9CM:798.0;   NCI:C85173
For additional species annotation, visit the Alliance of Genome Resources.



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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 Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000980 NCBI chr 1:116,715,286...116,837,223
Ensembl chr 1:116,714,711...116,837,240
JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000980 NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619
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 chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Sudden infant death syndrome
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar PMID:15913580 PMID:17210839 PMID:18222468 PMID:18596570 PMID:18675227 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME ClinVar PMID:28492532 NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603
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 PMID:15913580 PMID:17210839 PMID:17222736 PMID:17470695 PMID:17999538 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Sudden infant death syndrome
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar PMID:9299504 PMID:9806551 PMID:10519336 PMID:10521313 PMID:12160969 More... NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155597 NCBI chr 1:86,353,917...86,363,836
Ensembl chr 1:86,353,917...86,363,739
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:25741868 PMID:28492532 NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 susceptibility ISO ClinVar Annotator: match by OMIM:272120
ClinVar Annotator: match by term: Sudden Infant Death
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar Annotator: match by term: Sudden infant death syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11710892 PMID:12193783 PMID:12471205 PMID:14500339 PMID:15161528 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12599191 NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
JBrowse link
G Snta1 syntrophin, alpha 1 susceptibility ISO DNA:missense mutations:cds:multiple RGD PMID:20009079 RGD:6771369 NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709
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 chr20:38,082,003...38,084,562
Ensembl chr20:38,081,951...38,084,554
Ensembl chr20:38,081,951...38,084,554
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:cerebrospinal fluid RGD PMID:12563064 RGD:634255 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISS OMIM:272120 MouseDO NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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 PMID:25741868 NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992
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 null
OMIM
ClinVar
PMID:15273283 PMID:25741868 NCBI chr20:38,082,003...38,084,562
Ensembl chr20:38,081,951...38,084,554
Ensembl chr20:38,081,951...38,084,554
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    syndrome 8152
      sudden infant death syndrome 16
        Sudden Infant Death with Dysgenesis of the Testes Syndrome 2
Path 2
Term Annotations click to browse term
  disease 17256
    Pathological Conditions, Signs and Symptoms 10273
      Pathologic Processes 6712
        Death 136
          Infant Death 22
            sudden infant death syndrome 16
              Sudden Infant Death with Dysgenesis of the Testes Syndrome 2
paths to the root