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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 neonatorum
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Accession:DOID:11088 term browser browse the term
Definition:A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain. (DO)
Synonyms:exact_synonym: asphyxia in liveborn infant;   birth asphyxia;   postnatal asphyxia
 primary_id: MESH:D001238
 xref: EFO:1000824;   GARD:5857;   ICD10CM:P84;   ICD9CM:768.9
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Asphyxia neonatorum ClinVar PMID:8364588 PMID:25741868 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		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 6:103,323,052...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 chr13:62,163,936...62,172,193
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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      respiratory system disease 5243
        asphyxia neonatorum 15
          Thoracolaryngopelvic Dysplasia 0
Path 2
Term Annotations click to browse term
  disease 19100
    Pathological Conditions, Signs and Symptoms 13604
      Pathologic Processes 8260
        Death 173
          Asphyxia 25
            asphyxia neonatorum 15
              Thoracolaryngopelvic Dysplasia 0
paths to the root