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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:pre-eclampsia
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Accession:DOID:10591 term browser browse the term
Definition:A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. (DO)
Synonyms:exact_synonym: EPH Complex;   EPH Gestosis;   PEE;   Preeclampsia;   edema proteinuria hypertension gestosis;   gestational hypertension;   hypertension induced by pregnancy;   preeclampsia/eclampsia;   pregnancy associated hypertension;   proteinuric hypertension of pregnancy
 related_synonym: EPOXIDE HYDROLASE POLYMORPHISM;   HELLP;   HEMOLYSIS, ELEVATED LIVER ENZYMES, AND LOW PLATELET COUNT;   Preeclampsia, susceptibility to
 primary_id: MESH:D011225
 xref: ICD10CM:O14;   ICD10CM:O14.9;   ICD10CM:O14.90;   NCI:C34943;   NCI:C85021;   OMIM:PS189800;   ORDO:275555
For additional species annotation, visit the Alliance of Genome Resources.


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pre-eclampsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 ISO mRNA:increased expression:blood RGD PMID:19731222 RGD:5147993 NCBI chrNW_004936477:20,695,109...20,766,053 JBrowse link
G Agt angiotensinogen ISO ClinVar Annotator: match by term: Preeclampsia, susceptibility to
DNA:polymorphism: :p.M235T (human)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:7649545 PMID:7883995 PMID:8348146 PMID:8513325 PMID:8518804 More... RGD:1300394 RGD:13432363 NCBI chrNW_004936484:19,713,299...19,721,144 JBrowse link
G Anxa5 annexin A5 ISO CTD Direct Evidence: therapeutic CTD PMID:19837457 NCBI chrNW_004936662:926,302...959,964 JBrowse link
G Arhgap45 Rho GTPase activating protein 45 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26095815 NCBI chrNW_004936588:478,708...492,029 JBrowse link
G C3 complement C3 treatment ISO RGD PMID:23685261 RGD:7411624 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:serum (rat) RGD PMID:19617880 RGD:2317272 NCBI chrNW_004936490:253,279...259,947 JBrowse link
G Ccn3 cellular communication network factor 3 ISO protein:decreased expression:placenta (human) RGD PMID:16675545 RGD:1580971 NCBI chrNW_004936470:27,178,439...27,185,554 JBrowse link
G Cd274 CD274 molecule treatment ISO RGD PMID:27277012 RGD:40886269 NCBI chrNW_004936539:132,870...145,288 JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:blood, monocyte (human) RGD PMID:19221099 RGD:11520792 NCBI chrNW_004936514:6,936,915...6,947,246 JBrowse link
G Cd40lg CD40 ligand treatment ISO protein:increased expression:blood platelet (human) RGD PMID:23241952 PMID:26310940 RGD:11056772 RGD:11522719 NCBI chrNW_004936513:10,607,617...10,620,403 JBrowse link
G Cd46 CD46 molecule susceptibility
no_association
ISO DNA:missense mutation:cds:p.A304V (human) RGD PMID:21445332 PMID:25710174 RGD:11352807 RGD:6483459 NCBI chrNW_004936557:5,136,784...5,175,543 JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:umbilical cord, serum (human) RGD PMID:18054022 RGD:4892664 NCBI chrNW_004936567:1,411,080...1,418,332 JBrowse link
G Clu clusterin ISO DNA:SNP:exon:866C>T (human) RGD PMID:15925890 RGD:1581195 NCBI chrNW_004936675:499,745...513,515 JBrowse link
G Corin corin, serine peptidase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936482:13,782,571...13,999,561 JBrowse link
G Ddah2 dimethylarginine dimethylaminohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22285683 NCBI chrNW_004936727:1,803,711...1,807,441 JBrowse link
G Ebag9 estrogen receptor binding site associated antigen 9 ISO protein:increased expression:decidua RGD PMID:17845206 RGD:2289846 NCBI chrNW_004936470:35,449,920...35,473,635 JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25230003 NCBI chrNW_004936534:885,489...892,292 JBrowse link
G Edn2 endothelin 2 ISO RGD PMID:9015697 RGD:1580919 NCBI chrNW_004936474:23,061,219...23,064,525 JBrowse link
G Eng endoglin severity
treatment
ISO protein:increased expression:plasma (mouse)
protein:increased expression:serum (human)
protein:increased expression:serum (rat)
RGD PMID:20351341 PMID:22308016 PMID:22763474 PMID:23357179 PMID:23460287 RGD:7248767 RGD:7248768 RGD:7248777 RGD:7257524 RGD:7257530 NCBI chrNW_004936487:15,467,165...15,499,180 JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:11159352 RGD:1580974 NCBI chrNW_004936508:5,855,748...5,938,879 JBrowse link
G Ephx1 epoxide hydrolase 1 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism
CTD
RGD
PMID:11283205 PMID:12173035 RGD:1601064 NCBI chrNW_004936526:2,589,254...2,652,831 JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:9158311 RGD:1580990 NCBI chrNW_004936490:14,887,062...14,910,038 JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:15894829 RGD:1581016 NCBI chrNW_004936495:7,956,168...8,018,356 JBrowse link
G F2 coagulation factor II, thrombin severity ISO DNA:polymorphism: :20210G>A(human) RGD PMID:16246971 RGD:6893628 NCBI chrNW_004936562:2,371,725...2,388,617 JBrowse link
G F2r coagulation factor II thrombin receptor ISO RGD PMID:12161502 RGD:1581033 NCBI chrNW_004936549:226,508...247,024 JBrowse link
G F3 coagulation factor III, tissue factor ISO associated with Fetal Death;protein:increased expression:plasma RGD PMID:19736615 RGD:11340220 NCBI chrNW_004936537:4,637,028...4,647,915 JBrowse link
G F5 coagulation factor V severity ISO DNA:mutation: :1691G>A(human) RGD PMID:16246971 RGD:6893628 NCBI chrNW_004936481:17,114,441...17,178,902 JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:SNP:promoter:-670A>G(rs1800682)(human)
DNA:SNP:promoter:-670A>G (human)
RGD PMID:15695771 PMID:30066360 RGD:12903973 RGD:14700669 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Faslg Fas ligand susceptibility ISO DNA:SNP:intron:124A>G(rs5030772)(human) RGD PMID:30066360 RGD:14700669 NCBI chrNW_004936481:14,789,547...14,795,780 JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:15472115 PMID:18679377 PMID:28628106 RGD:1582493 NCBI chrNW_004936472:23,442,946...23,617,523 JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:missense mutation:cds:p.I105V (human) RGD PMID:11826024 RGD:737707 NCBI chrNW_004936599:2,197,681...2,200,642 JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197494 NCBI chrNW_004936492:5,042,353...5,049,216 JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO RGD PMID:21830843 RGD:8547718 NCBI chrNW_004936659:616,570...627,172 JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum (human) RGD PMID:21126355 RGD:6906962 NCBI chrNW_004936783:1,447,158...1,466,331 JBrowse link
G Inhba inhibin subunit beta A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17332518 NCBI chrNW_004936478:16,878,725...16,884,065 JBrowse link
G Itga4 integrin subunit alpha 4 ISO protein:increased expression:blood, granulocyte (rat) RGD PMID:10694336 RGD:9698441 NCBI chrNW_004936509:10,215,283...10,293,653 JBrowse link
G Kiss1 KiSS-1 metastasis suppressor ISO mRNA:decreased expression:whole blood RGD PMID:16952198 RGD:2292128 NCBI chrNW_004936567:584,443...595,045 JBrowse link
G Lcn2 lipocalin 2 ISO protein:increased expression:serum,urine RGD PMID:23957217 RGD:126781721 NCBI chrNW_004936487:15,721,752...15,725,396 JBrowse link
G Lepr leptin receptor ISO protein:increased expression:placenta RGD PMID:16021089 RGD:5128718 NCBI chrNW_004936591:5,771,371...5,846,177 JBrowse link
G LOC101962856 ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18679377 NCBI chrNW_004936519:6,431,156...6,473,183 JBrowse link
G LOC101968921 angiotensin-converting enzyme onset ISO CTD Direct Evidence: marker/mechanism
DNA:insertion/deletion:intron 16:
CTD
RGD
PMID:17114810 PMID:20044877 RGD:40400703 NCBI chrNW_004936541:4,157,847...4,178,156 JBrowse link
G LOC101968976 leptin ISO protein:decreased expression:plasma RGD PMID:16021089 RGD:5128718 NCBI chrNW_004936479:15,394,966...15,411,334 JBrowse link
G LOC101976500 haptoglobin severity ISO protein:increased expression
DNA:polymorphism
RGD PMID:16879055 PMID:17220952 RGD:1626337 RGD:1626343 NCBI chrNW_004936475:21,841,054...21,845,821 JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO mRNA, protein:decreased expression:placenta RGD PMID:17083831 RGD:2290399 NCBI chrNW_004936475:7,801,356...7,825,831 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO mRNA, protein:decreased expression:placenta RGD PMID:17083831 PMID:23776237 RGD:13204787 RGD:2290399 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Nos3 nitric oxide synthase 3 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:29250138 RGD:13504712 NCBI chrNW_004936527:6,427,147...6,445,770 JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Preeclampsia ClinVar PMID:12807965 PMID:15942875 PMID:17565729 PMID:18414213 PMID:21196496 More... NCBI chrNW_004936597:1,426,318...1,577,193 JBrowse link
G Pdcd1 programmed cell death 1 treatment ISO protein:increased expression:Treg cell RGD PMID:27277012 RGD:40886269 NCBI chrNW_004936745:152,571...163,712 JBrowse link
G Pde5a phosphodiesterase 5A ISO RGD PMID:18538317 RGD:2314465 NCBI chrNW_004936869:24,265...117,120 JBrowse link
G Pgf placental growth factor ISO RGD PMID:20720407 PMID:21756887 RGD:6483577 RGD:6483779 NCBI chrNW_004936488:4,098,187...4,111,108 JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO protein:increased expression:plasma RGD PMID:21722073 RGD:6484119 NCBI chrNW_004936706:840,968...855,552 JBrowse link
G Pml PML nuclear body scaffold ISO mRNA:decreased expression:placenta (human) RGD PMID:20228380 RGD:41404689 NCBI chrNW_004936471:33,135,186...33,173,218 JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO RGD PMID:15562025 RGD:1580687 NCBI chrNW_004936602:1,230,907...1,368,588 JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:9065198 RGD:11564336 NCBI chrNW_004936469:43,841,989...43,850,322 JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16555725 NCBI chrNW_004936709:1,377,852...1,403,398 JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:blood:
CTD
RGD
PMID:16952198 PMID:18679377 RGD:2292128 NCBI chrNW_004936543:1,032,543...1,040,956 JBrowse link
G Serpinf2 serpin family F member 2 ISO protein:increased expression:urine RGD PMID:1334334 RGD:1625535 NCBI chrNW_004936538:7,870,898...7,877,279 JBrowse link
G Stox1 storkhead box 1 no_association ISO CTD Direct Evidence: marker/mechanism
human fetally expressed gene in a mouse model
DNA:missense mutation:cds:p.Y153H (human)
CTD
RGD
PMID:15806103 PMID:17617193 PMID:23357179 RGD:11553888 RGD:11553890 RGD:7248768 NCBI chrNW_004936521:9,500,443...9,554,082 JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:increased expression:plasma: RGD PMID:10078579 RGD:11060132 NCBI chrNW_004936506:10,103,120...10,172,800 JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO mRNA, protein:increased expression:placenta RGD PMID:17083831 RGD:2290399 NCBI chrNW_004936502:13,345,936...13,350,170 JBrowse link
G Tlr3 toll like receptor 3 ISO protein:increased expression:placenta (rat) RGD PMID:19779466 RGD:5128769 NCBI chrNW_004936554:3,370,766...3,388,125 JBrowse link
G Tlr4 toll like receptor 4 ISO RGD PMID:16157088 RGD:1580682 NCBI chrNW_004936487:6,519,140...6,532,018 JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:15901845 RGD:1580314 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO human protein in rat model RGD PMID:21505354 RGD:5131211 NCBI chrNW_004936474:908,414...935,765 JBrowse link
G Uts2 urotensin 2 ISO RGD PMID:15866083 RGD:1580806 NCBI chrNW_004936623:2,339,259...2,345,717 JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:16517614 RGD:1580566 NCBI chrNW_004936476:16,245,134...16,261,180 JBrowse link
eclampsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 treatment ISO RGD PMID:27106269 RGD:11062145 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
HELLP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO protein:decreased activity:plasma (human) RGD PMID:12969811 RGD:10449045 NCBI chrNW_004936669:3,449,259...3,478,471 JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:blood platelet (human) RGD PMID:23241952 RGD:11522719 NCBI chrNW_004936513:10,607,617...10,620,403 JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:9158311 RGD:1580990 NCBI chrNW_004936490:14,887,062...14,910,038 JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:SNP:promoter:-670A>G(rs1800682)(human)
protein,mRNA:altered expression:placenta, liver:
RGD PMID:28501275 PMID:30066360 RGD:14700669 RGD:14700673 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Faslg Fas ligand susceptibility ISO DNA:SNP:intron:124A>G(rs5030772)(human)
protein:altered expression:blood, placenta, liver:
RGD PMID:28501275 PMID:30066360 RGD:14700669 RGD:14700673 NCBI chrNW_004936481:14,789,547...14,795,780 JBrowse link
Preeclampsia/Eclampsia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nos3 nitric oxide synthase 3 ISO OMIM NCBI chrNW_004936527:6,427,147...6,445,770 JBrowse link
Preeclampsia/Eclampsia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stox1 storkhead box 1 ISO OMIM NCBI chrNW_004936521:9,500,443...9,554,082 JBrowse link
Preeclampsia/Eclampsia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Corin corin, serine peptidase ISO OMIM NCBI chrNW_004936482:13,782,571...13,999,561 JBrowse link
Preeclamptic Toxemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO RGD PMID:22534418 RGD:6771230 NCBI chrNW_004936541:4,873,459...4,919,787 JBrowse link
G Ren renin ISO protein:increased activity:blood plasma (human) RGD PMID:683663 RGD:125097480 NCBI chrNW_004936567:598,044...607,628 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13024
    disease of anatomical entity 12705
      cardiovascular system disease 3295
        vascular disease 2383
          hypertension 768
            Pregnancy-Induced Hypertension 71
              pre-eclampsia 70
                Preeclampsia/Eclampsia 1 1
                Preeclampsia/Eclampsia 2 0
                Preeclampsia/Eclampsia 3 0
                Preeclampsia/Eclampsia 4 1
                Preeclampsia/Eclampsia 5 1
                Preeclamptic Toxemia 2
                eclampsia 1
                mild pre-eclampsia 0
                severe pre-eclampsia + 5
Path 2
Term Annotations click to browse term
  disease 13024
    disease of anatomical entity 12705
      cardiovascular system disease 3295
        vascular disease 2383
          artery disease 1551
            hypertension 768
              Pregnancy-Induced Hypertension 71
                pre-eclampsia 70
                  Preeclampsia/Eclampsia 1 1
                  Preeclampsia/Eclampsia 2 0
                  Preeclampsia/Eclampsia 3 0
                  Preeclampsia/Eclampsia 4 1
                  Preeclampsia/Eclampsia 5 1
                  Preeclamptic Toxemia 2
                  eclampsia 1
                  mild pre-eclampsia 0
                  severe pre-eclampsia + 5
paths to the root