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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 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000980 NCBI chr 2:189,088,570...189,096,785
Ensembl chr 2:189,088,570...189,096,785
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, PMID:23465283, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24715918, PMID:25741868, PMID:25998140, PMID:28492532, PMID:28837624 NCBI chr 8:122,957,570...122,987,236
Ensembl chr 8:122,954,948...122,987,191
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, PMID:19841300, PMID:20674198, PMID:21215473, PMID:22581653, PMID:22995991, PMID:23304551, PMID:24223155, PMID:25348405, PMID:25741868, PMID:26129877, PMID:26332594, PMID:27026747, PMID:27930701, PMID:28492532, PMID:29752375 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
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 4:176,783,287...176,789,143
Ensembl chr 4:176,782,498...176,789,304
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, PMID:18222468, PMID:18596570, PMID:18611041, PMID:19490272, PMID:19716085, PMID:19815527, PMID:21185501, PMID:21215473, PMID:21778721, PMID:22581653, PMID:22677073, PMID:23304551, PMID:23465283, PMID:24033266, PMID:24920132, PMID:25637381, PMID:25741868, PMID:28492532, PMID:30302399 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Sudden infant death syndrome ClinVar PMID:9299504, PMID:9806551, PMID:10519336, PMID:10521313, PMID:12160969, PMID:13298683, PMID:15972314 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 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
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 8:49,441,106...49,456,279
Ensembl chr 8:49,441,106...49,456,279
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 SYNDROME
ClinVar Annotator: match by term: Sudden Infant Death
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, PMID:15851227, PMID:15992732, PMID:15996170, PMID:16061744, PMID:16414944, PMID:16453014, PMID:16453024, PMID:16731473, PMID:16922724, PMID:17185997, PMID:17210839, PMID:17210841, PMID:17275750, PMID:17892895, PMID:17967976, PMID:18362431, PMID:18378609, PMID:18452875, PMID:18596570, PMID:19302788, PMID:19305408, PMID:19305409, PMID:19597050, PMID:19716085, PMID:19841300, PMID:19996378, PMID:20038812, PMID:20129283, PMID:20403459, PMID:20470418, PMID:20486126, PMID:21051419, PMID:21126620, PMID:21325150, PMID:21385947, PMID:21498565, PMID:21621375, PMID:22581653, PMID:22677073, PMID:22685113, PMID:22984773, PMID:23091201, PMID:23465283, PMID:23838598, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24144883, PMID:24332150, PMID:24400668, PMID:24606995, PMID:24613995, PMID:24681144, PMID:24951663, PMID:25051102, PMID:25065297, PMID:25637381, PMID:25741868, PMID:25757662, PMID:25923670, PMID:26213684, PMID:26467025, PMID:26743238, PMID:27077130, PMID:27153395, PMID:28492532, PMID:29202755, PMID:29431662, PMID:29540853, PMID:29728395, PMID:30079003, PMID:30311386, PMID:30364184 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12599191 NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
JBrowse link
G Snta1 syntrophin, alpha 1 susceptibility ISO DNA:missense mutations:cds:multiple RGD PMID:20009079 RGD:6771369 NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
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 chr20:41,083,317...41,085,876
Ensembl chr20:41,083,317...41,085,875
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:12563064 RGD:634255 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISS OMIM:272120 MouseDO NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
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 Tspyl1 TSPY-like 1 ISO ClinVar Annotator: match by null OMIM
ClinVar
PMID:15273283 NCBI chr20:41,083,317...41,085,876
Ensembl chr20:41,083,317...41,085,875
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      sudden infant death syndrome 15
        Sudden Infant Death with Dysgenesis of the Testes Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    Pathological Conditions, Signs and Symptoms 8726
      Pathologic Processes 6130
        Death 133
          Infant Death 21
            sudden infant death syndrome 15
              Sudden Infant Death with Dysgenesis of the Testes Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.