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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:Asphyxia
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Accession:DOID:9001041 term browser browse the term
Definition:A pathological condition caused by lack of oxygen, manifested in impending or actual cessation of life.
Synonyms:exact_synonym: Asphyxias;   Suffocation;   Suffocations
 primary_id: MESH:D001237;   RDO:0004927
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Asphyxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1 subunit alpha IEP mRNA, protein:increased expression:myocardium, lung (rat) RGD PMID:17285858 RGD:9068458 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Ift80 intraflagellar transport 80 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17468754 NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:18620825 RGD:4890002 NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656 		JBrowse link
G Sox4 SRY-box transcription factor 4 IDA RGD PMID:12011571 RGD:1581119 NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665 		JBrowse link
asphyxia neonatorum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit IEP mRNA:increased expression:brain RGD PMID:9763211 RGD:2302855 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit IEP mRNA:decreased expression:brain RGD PMID:9763211 RGD:2302855 NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 severity ISO DNA:deletion, haplotype:: (human) RGD PMID:21058530 RGD:12792218 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Htra2 HtrA serine peptidase 2 treatment IEP protein:increased expression:kidney: RGD PMID:20704803 RGD:10402931 NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095 		JBrowse link
G Map2 microtubule-associated protein 2 IEP RGD PMID:21858873 RGD:6483085 NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809 		JBrowse link
G Pdia3 protein disulfide isomerase family A, member 3 IEP protein:increased expression:hippocampus: RGD PMID:15453273 RGD:9999183 NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236 		JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr 6:103,323,014...103,375,088
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
G Psen2 presenilin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:urine RGD PMID:14707571 RGD:5508819 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 IEP mRNA:increased expression:brain RGD PMID:9763211 RGD:2302855 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
Perinatal Asphyxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstt1 glutathione S-transferase theta 1 severity ISO DNA:deletion:: (human) RGD PMID:21058530 RGD:12792218 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Wounds and Injuries 872
      Asphyxia 19
        Perinatal Asphyxia 1
        asphyxia neonatorum + 14
Path 2
Term Annotations click to browse term
  disease 17289
    Pathological Conditions, Signs and Symptoms 10289
      Pathologic Processes 6728
        Death 136
          Asphyxia 19
            Perinatal Asphyxia 1
            asphyxia neonatorum + 14
paths to the root