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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
 xref: EFO:0009446

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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 ISO mRNA, protein:increased expression:myocardium, lung (rat) RGD PMID:17285858 RGD:9068458 NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157 		JBrowse link
G Ift80 intraflagellar transport 80 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17468754 NCBI chrNW_004936708:238,302...362,537
Ensembl chrNW_004936708:238,268...362,519 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:18620825 RGD:4890002 NCBI chrNW_004936522:3,034,364...3,037,632
Ensembl chrNW_004936522:3,035,346...3,036,350 		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 chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Asphyxia neonatorum ClinVar PMID:8364588 PMID:25741868 NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO mRNA:increased expression:brain RGD PMID:9763211 RGD:2302855 NCBI chrNW_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692 		JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO mRNA:decreased expression:brain RGD PMID:9763211 RGD:2302855 NCBI chrNW_004936469:43,970,002...43,998,279
Ensembl chrNW_004936469:43,969,740...43,998,448 		JBrowse link
G Htra2 HtrA serine peptidase 2 treatment ISO protein:increased expression:kidney: RGD PMID:20704803 RGD:10402931 NCBI chrNW_004936556:741,718...746,016
Ensembl chrNW_004936556:741,718...749,090 		JBrowse link
G Map2 microtubule associated protein 2 ISO RGD PMID:21858873 RGD:6483085 NCBI chrNW_004936845:475,406...752,600
Ensembl chrNW_004936845:473,366...545,135 		JBrowse link
G Pdia3 protein disulfide isomerase family A member 3 ISO protein:increased expression:hippocampus: RGD PMID:15453273 RGD:9999183 NCBI chrNW_004936471:6,809,181...6,834,189
Ensembl chrNW_004936471:6,809,195...6,836,169 		JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chrNW_004936488:2,464,623...2,528,807
Ensembl chrNW_004936488:2,464,527...2,530,065 		JBrowse link
G Psen2 presenilin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chrNW_004936526:3,584,194...3,611,719
Ensembl chrNW_004936526:3,584,188...3,614,074 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 ISO mRNA:increased expression:brain RGD PMID:9763211 RGD:2302855 NCBI chrNW_004936706:752,571...783,746
Ensembl chrNW_004936706:751,108...783,777 		JBrowse link
Perinatal Asphyxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cers1 ceramide synthase 1 ISO RGD PMID:23625371 RGD:156431056 NCBI chrNW_004936596:2,442,978...2,467,184
Ensembl chrNW_004936596:2,442,991...2,467,184 		JBrowse link
G Cert1 ceramide transporter 1 ISO RGD PMID:23625371 RGD:156431056 NCBI chrNW_004936549:1,261,913...1,368,743
Ensembl chrNW_004936549:1,261,931...1,371,380 		JBrowse link
G Gpx3 glutathione peroxidase 3 severity ISO protein:increased expression:plasma RGD PMID:18279752 RGD:401827841 NCBI chrNW_004936647:3,904,787...3,914,223
Ensembl chrNW_004936647:3,906,113...3,913,498 		JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K treatment ISO RGD PMID:33951501 RGD:155269042 NCBI chrNW_004936828:827,660...839,088
Ensembl chrNW_004936828:828,837...838,720 		JBrowse link
G Osbp oxysterol binding protein ISO RGD PMID:23625371 RGD:156431056 NCBI chrNW_004936581:3,118,198...3,148,882
Ensembl chrNW_004936581:3,118,192...3,149,005 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14498
    Wounds and Injuries 894
      Asphyxia 21
        Perinatal Asphyxia 5
        asphyxia neonatorum + 13
Path 2
Term Annotations click to browse term
  disease 14498
    Pathological Conditions, Signs and Symptoms 11294
      Pathologic Processes 7002
        Death 161
          Asphyxia 21
            Perinatal Asphyxia 5
            asphyxia neonatorum + 13
paths to the root