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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: EFO:0000668;   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 ACE angiotensin I converting enzyme onset ISO CTD Direct Evidence: marker/mechanism
DNA:insertion/deletion:intron 16:
CTD
RGD
PMID:17114810 PMID:20044877 RGD:40400703 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G ACVR2B activin A receptor type 2B ISO protein:increased expression:placenta (human) RGD PMID:27176145 RGD:329853749 NCBI chr23:8,211,555...8,225,596
Ensembl chr23:8,192,483...8,218,894
JBrowse link
G ADD1 adducin 1 ISO mRNA:increased expression:blood RGD PMID:19731222 RGD:5147993 NCBI chr 3:61,356,643...61,443,851
Ensembl chr 3:61,358,162...61,474,830
JBrowse link
G AGT angiotensinogen ISO ClinVar Annotator: match by term: Preeclampsia, susceptibility to ClinVar PMID:1394429 PMID:7649545 PMID:7883995 PMID:8348146 PMID:8513325 More... NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
JBrowse link
G AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) treatment ISO mRNA:decreased expression:blood: RGD PMID:19681734 PMID:25876805 RGD:10053633 RGD:11541124 NCBI chr 2:30,661,333...30,691,283
Ensembl chr 2:30,674,558...30,690,043
JBrowse link
G ALB albumin severity ISO RGD PMID:21923989 RGD:11035264 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G ALKBH5 alkB homolog 5, RNA demethylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:34995009 NCBI chr 5:41,339,292...41,365,641
Ensembl chr 5:41,343,241...41,364,547
JBrowse link
G ANXA5 annexin A5 ISO CTD Direct Evidence: therapeutic CTD PMID:19837457 NCBI chr19:18,419,936...18,450,088
Ensembl chr19:18,407,587...18,570,378
JBrowse link
G APELA apelin receptor early endogenous ligand ISO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 MouseDO NCBI chr15:60,967,944...60,990,955 JBrowse link
G ARHGAP45 Rho GTPase activating protein 45 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26095815 NCBI chr20:57,656,693...57,668,324
Ensembl chr20:57,657,154...57,787,713
JBrowse link
G ARID1A AT-rich interaction domain 1A disease_progression ISO associated with Fetal Growth Retardation; protein:increased expression:placenta, nucleus (human) RGD PMID:32529396 RGD:243065143 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
JBrowse link
G ASB4 ankyrin repeat and SOCS box containing 4 ISO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 MouseDO NCBI chr14:20,733,592...20,794,394
Ensembl chr14:20,733,436...20,792,082
JBrowse link
G ATP2B1 ATPase plasma membrane Ca2+ transporting 1 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr15:30,547,009...30,674,094
Ensembl chr15:30,547,015...30,616,429
JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr  X:121,355,217...121,405,245
Ensembl chr  X:121,361,239...121,403,609
JBrowse link
G ATP2B4 ATPase plasma membrane Ca2+ transporting 4 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr38:321,246...420,262
Ensembl chr38:366,656...416,952
JBrowse link
G C3 complement C3 treatment ISO RGD PMID:23685261 RGD:7411624 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
JBrowse link
G CALB1 calbindin 1 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr29:35,551,836...35,572,985
Ensembl chr29:35,552,436...35,572,925
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased secretion:serum (rat) RGD PMID:19617880 RGD:2317272 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
JBrowse link
G CCN3 cellular communication network factor 3 ISO protein:decreased expression:placenta (human) RGD PMID:16675545 RGD:1580971 NCBI chr13:18,507,586...18,515,755
Ensembl chr13:18,507,580...18,514,619
JBrowse link
G CD274 CD274 molecule treatment ISO RGD PMID:27277012 RGD:40886269 NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522
JBrowse link
G CD40 CD40 molecule ISO protein:increased expression:blood, monocyte (human) RGD PMID:19221099 RGD:11520792 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
JBrowse link
G CD40LG CD40 ligand treatment ISO protein:increased expression:blood platelet (human) RGD PMID:23241952 PMID:26310940 RGD:11056772 RGD:11522719 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C ISO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 MouseDO NCBI chr18:46,860,636...46,861,697 JBrowse link
G CEBPA CCAAT enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:34398343 NCBI chr 1:118,846,252...118,851,045 JBrowse link
G CHI3L1 chitinase 3 like 1 ISO protein:increased secretion:umbilical cord, serum (human) RGD PMID:18054022 RGD:4892664 NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427
JBrowse link
G CLU clusterin ISO DNA:SNP:exon:866C>T (human) RGD PMID:15925890 RGD:1581195 NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563
JBrowse link
G CMKLR1 chemerin chemokine-like receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34398343 NCBI chr26:18,487,700...18,539,678
Ensembl chr26:18,532,479...18,533,576
JBrowse link
G COMT catechol-O-methyltransferase ISO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 MouseDO NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008
JBrowse link
G CORIN corin, serine peptidase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:43,501,287...43,737,522
Ensembl chr13:43,502,665...43,737,813
JBrowse link
G CP ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18679377 NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369
JBrowse link
G CREBBP CREB binding protein ISO mRNA:decreased expression:placenta (human) RGD PMID:33625689 RGD:153350159 NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176
JBrowse link
G CUBN cubilin ISO associated with late term delivery; mRNA:decreased expression:placenta (human) RGD PMID:32682061 RGD:401901078 NCBI chr 2:19,784,125...20,041,840
Ensembl chr 2:19,784,198...20,041,839
JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO DNA:missense mutation:cds:p.V386A (human) RGD PMID:15569322 RGD:1576428 NCBI chr13:36,866,476...36,880,625 JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 ISO associated with hypoxia; protein:increased expression:placenta (human)
mRNA:increased expression:placenta (human)
RGD PMID:22871339 PMID:36477942 RGD:401901075 RGD:401901174 NCBI chr24:39,861,018...39,878,161
Ensembl chr24:39,862,355...39,878,216
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO mRNA:increased expression:placenta (human)
associated with hypoxia; protein:increased expression:placenta (human)
RGD PMID:22871339 PMID:36477942 RGD:401901075 RGD:401901174 NCBI chr10:1,825,224...1,830,845
Ensembl chr10:1,826,046...1,829,911
JBrowse link
G CYP2J2 cytochrome P450 family 2 subfamily J member 2 ISO mRNA:increased expression:placenta, decidua RGD PMID:23155181 RGD:7243127 NCBI chr 5:49,942,241...49,986,603
Ensembl chr 5:49,942,193...49,984,617
JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 ISO associated with hypoxia; protein:decreased expression:placenta (human)
mRNA:decreased expression:placenta (human)
RGD PMID:22871339 PMID:32682061 PMID:36477942 RGD:401901075 RGD:401901078 RGD:401901174 NCBI chr21:37,553,883...37,579,744
Ensembl chr21:37,552,732...37,606,725
JBrowse link
G DAB2IP DAB2 interacting protein ISO mRNA, protein:decreased expression:placenta (human) RGD PMID:25604087 RGD:11553571 NCBI chr 9:60,725,887...60,918,242
Ensembl chr 9:60,726,809...60,918,139
JBrowse link
G DDAH2 DDAH family member 2, ADMA-independent ISO CTD Direct Evidence: marker/mechanism CTD PMID:22285683 NCBI chr12:1,206,180...1,209,459
Ensembl chr12:1,206,309...1,208,389
JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*04 (human) RGD PMID:10960630 RGD:36174024 NCBI chr12:2,305,307...2,307,711 JBrowse link
G DNAH8 dynein axonemal heavy chain 8 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr12:7,617,638...7,972,842
Ensembl chr12:7,617,592...7,972,842
JBrowse link
G EBAG9 estrogen receptor binding site associated antigen 9 ISO protein:increased expression:decidua RGD PMID:17845206 RGD:2289846 NCBI chr13:10,081,700...10,099,737
Ensembl chr13:10,081,695...10,099,501
JBrowse link
G EBI3 Epstein-Barr virus induced 3 ameliorates ISO RGD PMID:31203154 RGD:213230155 NCBI chr20:55,382,975...55,391,252
Ensembl chr20:55,383,247...55,390,336
JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25230003 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
JBrowse link
G EDN2 endothelin 2 ISO RGD PMID:9015697 RGD:1580919 NCBI chr15:1,647,966...1,654,272
Ensembl chr15:1,648,077...1,654,272
JBrowse link
G EIF3D eukaryotic translation initiation factor 3 subunit D ISO CTD Direct Evidence: marker/mechanism CTD PMID:34520790 NCBI chr10:27,890,913...27,904,887
Ensembl chr10:27,890,938...27,904,886
JBrowse link
G ENG endoglin treatment
severity
ISO protein:increased expression:serum (rat)
protein:increased expression:serum (human)
protein:increased expression:plasma (mouse)
RGD PMID:20351341 PMID:22308016 PMID:22763474 PMID:23357179 PMID:23460287 RGD:7248767 RGD:7248768 RGD:7248777 RGD:7257524 RGD:7257530 NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064
JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 ISO protein:decreased expression:abdominal fascia: RGD PMID:17469012 RGD:9685457 NCBI chr28:9,181,851...9,311,835
Ensembl chr28:9,211,050...9,323,939
JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO RGD PMID:11159352 RGD:1580974 NCBI chr10:48,550,836...48,636,776
Ensembl chr10:48,551,410...48,634,844
JBrowse link
G EPHX1 epoxide hydrolase 1 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism
CTD
RGD
PMID:11283205 PMID:12173035 RGD:1601064 NCBI chr 7:38,964,319...39,004,902
Ensembl chr 7:38,964,338...38,999,238
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:9158311 RGD:1580990 NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294
JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:15894829 RGD:1581016 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691
JBrowse link
G F2 coagulation factor II, thrombin severity ISO DNA:polymorphism: :20210G>A(human) RGD PMID:16246971 RGD:6893628 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
JBrowse link
G F2R coagulation factor II thrombin receptor ISO RGD PMID:12161502 RGD:1581033 NCBI chr 3:29,870,159...29,889,837
Ensembl chr 3:29,872,155...29,889,687
JBrowse link
G F3 coagulation factor III, tissue factor ISO associated with Fetal Death;protein:increased expression:plasma RGD PMID:19736615 RGD:11340220 NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607
JBrowse link
G F5 coagulation factor V severity ISO DNA:mutation: :1691G>A(human) RGD PMID:16246971 RGD:6893628 NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296
JBrowse link
G FABP4 fatty acid binding protein 4 ISO protein:increased expression:blood serum (human) RGD PMID:19573524 RGD:329845853 NCBI chr29:28,651,550...28,656,255
Ensembl chr29:28,652,146...28,656,228
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 chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FASLG Fas ligand susceptibility ISO DNA:SNP:intron:124A>G(rs5030772)(human) RGD PMID:30066360 RGD:14700669 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO mRNA,protein:increased expression:placenta
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15472115 PMID:18679377 PMID:22262697 PMID:28628106 RGD:1582493 RGD:243048428 NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO mRNA:increased expression:placenta RGD PMID:31991880 RGD:329961300 NCBI chr20:57,440,698...57,442,588 JBrowse link
G GATA2 GATA binding protein 2 onset ISO RGD PMID:30659233 RGD:401850546 NCBI chr20:2,472,251...2,488,380
Ensembl chr20:2,473,912...2,480,991
JBrowse link
G GATM glycine amidinotransferase ISO mRNA:increased expression:placenta RGD PMID:31991880 RGD:329961300 NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214
JBrowse link
G GC GC vitamin D binding protein ISO mRNA:decreased expression:placenta (human) RGD PMID:32682061 RGD:401901078 NCBI chr13:60,795,305...60,828,038
Ensembl chr13:60,795,305...60,827,929
JBrowse link
G GPX1 glutathione peroxidase 1 ISO protein:decreased expression:placenta
mRNA:decreased expression:placenta
RGD PMID:18852388 PMID:20303587 PMID:28705740 RGD:401827170 RGD:401827825 RGD:401827849 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
JBrowse link
G GPX3 glutathione peroxidase 3 ISO protein:decreased expression:placenta
mRNA:decreased expression:placenta
RGD PMID:18852388 PMID:20303587 PMID:28705740 RGD:401827170 RGD:401827825 RGD:401827849 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010
JBrowse link
G GPX4 glutathione peroxidase 4 ISO protein:decreased expression:placenta
mRNA:decreased expression:placenta
RGD PMID:18852388 PMID:20303587 RGD:401827170 RGD:401827849
G GSN gelsolin disease_progression ISO protein:decreased expression:blood plasma (human) RGD PMID:24239294 RGD:329337339 NCBI chr11:74,248,227...74,268,129
Ensembl chr11:74,233,457...74,268,129
JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility ISO DNA:missense mutation:cds:p.I105V (human) RGD PMID:11826024 RGD:737707 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:chorionic villus (human) RGD PMID:22840297 RGD:155631283 NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197494 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
JBrowse link
G HNF1A HNF1 homeobox A susceptibility ISO associated with gestational diabetes;DNA:SNP:cd: p.I27L (rs1169288) (human) RGD PMID:31825269 RGD:329901812 NCBI chr26:16,805,690...16,826,065
Ensembl chr26:16,805,690...16,824,790
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 susceptibility ISO DNA:SNPs,haplotype: (rs2235543,rs846910) (human) RGD PMID:23659736 RGD:329901926 NCBI chr 7:8,344,380...8,409,901
Ensembl chr 7:8,344,447...8,409,897
JBrowse link
G ICAM1 intercellular adhesion molecule 1 treatment ISO RGD PMID:21830843 RGD:8547718 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 MouseDO NCBI chr16:25,391,759...25,407,161
Ensembl chr16:25,391,754...25,407,048
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:increased expression:serum (human) RGD PMID:21126355 RGD:6906962 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G IL6 interleukin 6 ameliorates ISO RGD PMID:31203154 RGD:213230155 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G INHBA inhibin subunit beta A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17332518 NCBI chr18:8,272,978...8,288,432
Ensembl chr18:8,272,872...8,283,794
JBrowse link
G ISCU iron-sulfur cluster assembly enzyme ISO mRNA:decreased expression:chorionic villus (human) RGD PMID:22840297 RGD:155631283 NCBI chr26:18,300,800...18,307,668
Ensembl chr26:18,300,803...18,307,652
JBrowse link
G ITGA4 integrin subunit alpha 4 ISO protein:increased expression:blood, granulocyte (rat) RGD PMID:10694336 RGD:9698441 NCBI chr36:24,670,464...24,686,719
Ensembl chr36:24,653,408...24,729,057
JBrowse link
G ITGAM integrin subunit alpha M ISO associated with Fetal Growth Retardation;mRNA:decreased expression:placenta (human)
protein:increased expression:neutrophil (human)
DNA:missense mutations:CDS:p.M441K (rs1143680), p.T1000N (rs41321249) (human)
RGD PMID:18437152 PMID:32014817 PMID:33539617 RGD:329853770 RGD:329901659 RGD:329901825 NCBI chr 6:16,944,062...16,996,525
Ensembl chr 6:16,808,971...16,996,286
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr20:12,746,171...13,065,256
Ensembl chr20:12,747,315...13,064,198
JBrowse link
G ITPR2 inositol 1,4,5-trisphosphate receptor type 2 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr27:20,806,670...21,278,638
Ensembl chr27:20,805,842...21,350,083
JBrowse link
G ITPR3 inositol 1,4,5-trisphosphate receptor type 3 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr12:2,970,613...3,050,254
Ensembl chr12:2,805,187...3,048,938
JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 ISO protein:decreased expression:umbilical artery,umbilical vein (human) RGD PMID:23261940 RGD:329955574 NCBI chr 1:111,391,464...111,407,612
Ensembl chr 1:111,391,159...111,407,701
JBrowse link
G KISS1 KiSS-1 metastasis suppressor ISO mRNA:decreased expression:whole blood RGD PMID:16952198 RGD:2292128 NCBI chr38:768,333...774,328
Ensembl chr38:768,585...773,382
JBrowse link
G LCN2 lipocalin 2 ISO protein:increased expression:serum,urine RGD PMID:23957217 RGD:126781721 NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038
JBrowse link
G LEP leptin ISO protein:decreased expression:plasma RGD PMID:16021089 RGD:5128718 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
JBrowse link
G LEPR leptin receptor ISO protein:increased expression:placenta RGD PMID:16021089 RGD:5128718 NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636
JBrowse link
G LOC607874 cystatin-C-like ISO protein:increased expression:plasma (human) RGD PMID:18197549 RGD:2314350 NCBI chr23:49,562...53,618 JBrowse link
G LOC609365 CD46 molecule, complement regulatory protein-like no_association
susceptibility
ISO DNA:missense mutation:cds:p.A304V (human) RGD PMID:21445332 PMID:25710174 RGD:11352807 RGD:6483459 NCBI chr 7:6,602,762...6,646,561 JBrowse link
G MIR126 microRNA mir-126 ISO miRNA:decreased expression:blood serum (human) RGD PMID:25017274 PMID:30659233 RGD:155882496 RGD:401850546 NCBI chr 9:48,879,438...48,879,496
Ensembl chr 9:48,879,432...48,879,504
JBrowse link
G MIR144 microRNA mir-144 ISO miRNA:decreased expression:blood serum (human) RGD PMID:25017274 RGD:155882496 NCBI chr 9:43,031,035...43,031,094
Ensembl chr 9:43,031,035...43,031,094
JBrowse link
G MIR148A microRNA mir-148a ameliorates ISO RGD PMID:31203154 RGD:213230155 NCBI chr14:39,301,847...39,301,906
Ensembl chr14:39,301,843...39,301,920
JBrowse link
G MIR152 microRNA mir-152 ISO miRNA:increased expression:placenta
miRNA:increased expression:blood serum (human)
RGD PMID:25017274 PMID:31114978 RGD:155882496 RGD:21066344 NCBI chr 9:24,335,161...24,335,219
Ensembl chr 9:24,335,146...24,335,225
JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:increased expression:blood serum (human) RGD PMID:28700503 RGD:155882490 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833
JBrowse link
G MIR15B microRNA mir-15b ISO miRNA:decreased expression:blood serum (human) RGD PMID:25017274 RGD:155882496 NCBI chr34:26,460,663...26,460,722
Ensembl chr34:26,460,645...26,460,741
JBrowse link
G MIR193A microRNA mir-193a ISO miRNA:increased expression:blood serum (human) RGD PMID:25017274 RGD:155882496 NCBI chr 9:41,316,481...41,316,536
Ensembl chr 9:41,316,474...41,316,542
JBrowse link
G MIR204 microRNA mir-204 ISO miRNA:increased expression:blood serum (human) RGD PMID:25017274 RGD:155882496 NCBI chr 1:86,818,494...86,818,553
Ensembl chr 1:86,818,489...86,818,556
JBrowse link
G MIR216A microRNA mir-216a ameliorates ISO RGD PMID:31203154 RGD:213230155 NCBI chr10:56,761,430...56,761,534
Ensembl chr10:56,761,430...56,761,534
JBrowse link
G MIR25 microRNA mir-25 ISO miRNA:increased expression:blood serum (human) RGD PMID:25017274 RGD:155882496 NCBI chr 6:9,498,993...9,499,051
Ensembl chr 6:9,498,993...9,499,051
JBrowse link
G MIR32 microRNA mir-32 ISO miRNA:increased expression:blood serum (human) RGD PMID:25017274 RGD:155882496 NCBI chr11:64,197,130...64,197,191
Ensembl chr11:64,197,129...64,197,196
JBrowse link
G MIR335 microRNA mir-335 ISO miRNA:decreased expression:blood serum (human) RGD PMID:25017274 RGD:155882496 NCBI chr14:6,444,861...6,444,918
Ensembl chr14:6,444,847...6,444,932
JBrowse link
G MIR423A microRNA mir-423a ISO miRNA:increased expression:plasma RGD PMID:30587375 RGD:158014896 NCBI chr 9:44,155,913...44,155,971 JBrowse link
G MMP2 matrix metallopeptidase 2 ISO mRNA, protein:decreased expression:placenta RGD PMID:17083831 RGD:2290399 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO mRNA, protein:decreased expression:placenta RGD PMID:17083831 PMID:23776237 RGD:13204787 RGD:2290399 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:29250138 RGD:13504712 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G NOTCH2 notch receptor 2 ISO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 MouseDO NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857
JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 exacerbates ISO mRNA, protein:increased expression:placenta (human)
mRNA:altered expression:placenta, adipose tissue (human)
RGD PMID:20655109 PMID:28352810 RGD:401842369 RGD:401850787 NCBI chr18:42,333,173...42,346,152
Ensembl chr18:42,333,202...42,341,236
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Preeclampsia ClinVar PMID:12464997 PMID:12807965 PMID:15942875 PMID:17565729 PMID:18414213 More... NCBI chr 4:36,058,351...36,214,254
Ensembl chr 4:36,063,134...36,210,999
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO mRNA:increased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO protein:increased expression:Treg cell RGD PMID:27277012 RGD:40886269 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
JBrowse link
G PDE5A phosphodiesterase 5A ISO RGD PMID:18538317 RGD:2314465 NCBI chr32:38,272,573...38,407,517
Ensembl chr32:38,244,338...38,407,522
JBrowse link
G PEG10 paternally expressed 10 onset ISO mRNA, protein:decreased expression:placenta (human)
mRNA, protein:increased expression:placenta (human)
RGD PMID:22137777 PMID:25526181 PMID:37464405 RGD:401851069 RGD:401851073 RGD:401851074 NCBI chr14:20,121,414...20,134,133
Ensembl chr14:20,121,414...20,134,133
JBrowse link
G PGF placental growth factor ISO RGD PMID:20720407 PMID:21756887 RGD:6483577 RGD:6483779 NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170
JBrowse link
G PLAUR plasminogen activator, urokinase receptor ISO protein:increased expression:plasma RGD PMID:21722073 RGD:6484119 NCBI chr 1:111,476,804...111,490,876
Ensembl chr 1:111,476,893...111,490,880
JBrowse link
G PML PML nuclear body scaffold ISO mRNA:decreased expression:placenta (human) RGD PMID:20228380 RGD:41404689 NCBI chr30:37,232,337...37,278,434
Ensembl chr30:37,232,306...37,277,741
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:15562025 PMID:34995009 RGD:1580687 NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:9065198 RGD:11564336 NCBI chr19:23,173,626...23,183,634
Ensembl chr19:23,173,635...23,183,563
JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 MouseDO NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819
JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 disease_progression ISO mRNA:decreased expression:placenta (human) RGD PMID:27746364 RGD:155260325 NCBI chr 7:78,160,564...78,252,382
Ensembl chr 7:78,160,589...78,252,719
JBrowse link
G RARRES2 retinoic acid receptor responder 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34398343 NCBI chr16:14,671,345...14,675,000
Ensembl chr16:14,671,130...14,674,926
JBrowse link
G RBP4 retinol binding protein 4 disease_progression ISO protein:decreased expression:umbilical cord,blood serum (human)
protein:increased expression:blood serum (human)
RGD PMID:21173508 PMID:21299359 RGD:329845578 RGD:329845866 NCBI chr28:7,822,936...7,830,735
Ensembl chr28:7,822,944...7,830,750
JBrowse link
G ROBO1 roundabout guidance receptor 1 ISO mRNA,protein:increased expression:placenta RGD PMID:22262697 RGD:243048428 NCBI chr31:8,082,363...8,594,623
Ensembl chr31:7,626,126...8,593,728
JBrowse link
G ROBO4 roundabout guidance receptor 4 ISO mRNA,protein:increased expression:placenta RGD PMID:22262697 RGD:243048428 NCBI chr 5:9,546,830...9,561,342
Ensembl chr 5:9,547,047...9,561,702
JBrowse link
G RYR1 ryanodine receptor 1 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
JBrowse link
G RYR2 ryanodine receptor 2 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 4:2,371,868...2,908,132
Ensembl chr 4:2,373,114...2,907,875
JBrowse link
G RYR3 ryanodine receptor 3 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr30:1,179,575...1,533,352
Ensembl chr30:1,180,359...1,533,619
JBrowse link
G S100G S100 calcium binding protein G ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr  X:12,808,234...12,813,696
Ensembl chr  X:12,808,718...12,812,972
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16555725 NCBI chr27:38,612,206...38,638,212
Ensembl chr27:38,612,194...38,638,980
JBrowse link
G SERPINA1 serpin family A member 1 ISO RGD PMID:1852102 RGD:1643155 NCBI chr 8:63,388,498...63,400,377
Ensembl chr 8:63,376,945...63,398,435
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 chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
JBrowse link
G SERPINF2 serpin family F member 2 ISO protein:increased expression:urine RGD PMID:1334334 RGD:1625535 NCBI chr 9:45,876,076...45,883,777
Ensembl chr 9:45,877,495...45,883,036
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO mRNA:decreased expression:chorionic villus (human) RGD PMID:22840297 RGD:155631283 NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140
JBrowse link
G STOX1 storkhead box 1 no_association ISO DNA:missense mutation:cds:p.Y153H (human)
human fetally expressed gene in a mouse model
RGD PMID:15806103 PMID:17617193 PMID:23357179 RGD:11553888 RGD:11553890 RGD:7248768 NCBI chr 4:20,013,893...20,065,480
Ensembl chr 4:20,014,007...20,060,394
JBrowse link
G TFPI tissue factor pathway inhibitor ISO protein:increased expression:plasma: RGD PMID:10078579 RGD:11060132 NCBI chr36:29,457,131...29,546,455
Ensembl chr36:29,459,371...29,511,310
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO mRNA, protein:increased expression:placenta RGD PMID:17083831 RGD:2290399 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310
JBrowse link
G TLR3 toll like receptor 3 ISO protein:increased expression:placenta (rat) RGD PMID:19779466 RGD:5128769 NCBI chr16:44,617,012...44,633,591
Ensembl chr16:44,550,846...44,653,247
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:16157088 RGD:1580682 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TNF tumor necrosis factor ameliorates ISO RGD PMID:15901845 PMID:31203154 RGD:1580314 RGD:213230155 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO human protein in rat model RGD PMID:21505354 RGD:5131211 NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
JBrowse link
G TRPV5 transient receptor potential cation channel subfamily V member 5 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr16:6,647,070...6,678,080
Ensembl chr16:6,650,574...6,676,963
JBrowse link
G TRPV6 transient receptor potential cation channel subfamily V member 6 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr16:6,691,521...6,706,205
Ensembl chr16:6,691,254...6,706,207
JBrowse link
G UTS2 urotensin 2 ISO RGD PMID:15866083 RGD:1580806 NCBI chr 5:61,503,268...61,508,146 JBrowse link
G VDR vitamin D receptor ISO associated with Premature Birth; mRNA:increased expression:placenta (human)
protein:decreased expression:placenta (human)
mRNA:decreased expression:placenta (human)
RGD PMID:22871339 PMID:32682061 PMID:36477942 RGD:401901075 RGD:401901078 RGD:401901174 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA:decreased expression:chorionic villus (human) RGD PMID:16517614 PMID:22840297 RGD:155631283 RGD:1580566 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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 chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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 chr 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295
JBrowse link
G AHSP alpha hemoglobin stabilizing protein ISO mRNA:decreased expression:placenta (human) RGD PMID:18347943 RGD:329956422 NCBI chr 6:16,744,879...16,745,826
Ensembl chr 6:16,744,879...16,745,745
JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:blood platelet (human) RGD PMID:23241952 RGD:11522719 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:9158311 RGD:1580990 NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294
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 chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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 chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
JBrowse link
mild pre-eclampsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPX3 glutathione peroxidase 3 ISO protein:increased expression:plasma RGD PMID:8476834 RGD:401827852 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010
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 ClinVar Annotator: match by term: Preeclampsia/eclampsia 4 OMIM
ClinVar
PMID:15806103 PMID:17325670 PMID:33116287 NCBI chr 4:20,013,893...20,065,480
Ensembl chr 4:20,014,007...20,060,394
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 ClinVar Annotator: match by term: Preeclampsia/eclampsia 5 OMIM
ClinVar
PMID:22437503 PMID:24828501 PMID:25741868 PMID:28492532 NCBI chr13:43,501,287...43,737,522
Ensembl chr13:43,502,665...43,737,813
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 chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778
JBrowse link
G REN renin ISO protein:increased activity:blood plasma (human) RGD PMID:683663 RGD:125097480 NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012
JBrowse link
severe pre-eclampsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1 activin A receptor type 1 severity ISO mRNA:increased expression:decidua basalis (human) RGD PMID:24331737 RGD:329845529 NCBI chr36:3,743,257...3,818,659
Ensembl chr36:3,744,163...3,818,652
JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 susceptibility ISO DNA:polymorphism::p.D148E (human) RGD PMID:24619222 RGD:401850778 NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422
JBrowse link
G COL4A2 collagen type IV alpha 2 chain severity ISO mRNA:increased expression:decidua basalis (human) RGD PMID:24331737 RGD:329845529 NCBI chr22:58,656,579...58,820,560
Ensembl chr22:58,697,175...58,773,297
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 severity ISO mRNA:increased expression:decidua basalis (human) RGD PMID:24331737 RGD:329845529 NCBI chr 3:12,879,823...12,920,710
Ensembl chr 3:12,879,477...12,919,634
JBrowse link
G ERAP2 endoplasmic reticulum aminopeptidase 2 severity ISO mRNA:increased expression:decidua basalis (human) RGD PMID:24331737 RGD:329845529 NCBI chr 3:12,780,084...12,819,795
Ensembl chr 3:12,781,849...12,817,025
JBrowse link
G GPX3 glutathione peroxidase 3 ISO protein:increased expression:plasma RGD PMID:8476834 RGD:401827852 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010
JBrowse link
G LNPEP leucyl and cystinyl aminopeptidase severity ISO mRNA:increased expression:decidua basalis (human) RGD PMID:24331737 RGD:329845529 NCBI chr 3:12,668,994...12,766,712
Ensembl chr 3:12,681,577...12,767,183
JBrowse link
G MIR155 microRNA mir-155 severity ISO miRNA:increased expression:blood serum (human) RGD PMID:31487655 RGD:155582220 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833
JBrowse link
G RBP4 retinol binding protein 4 severity ISO protein:increased expression:blood serum (human)
protein:decreased expression:blood serum (human)
RGD PMID:19573524 PMID:27279411 PMID:31949674 RGD:329845847 RGD:329845853 RGD:329845859 NCBI chr28:7,822,936...7,830,735
Ensembl chr28:7,822,944...7,830,750
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 15182
      Urogenital Diseases 4749
        Female Urogenital Diseases and Pregnancy Complications 2376
          Pregnancy Complications 755
            Pregnancy-Induced Hypertension 158
              pre-eclampsia 157
                Preeclampsia/Eclampsia 1 0
                Preeclampsia/Eclampsia 2 0
                Preeclampsia/Eclampsia 3 0
                Preeclampsia/Eclampsia 4 1
                Preeclampsia/Eclampsia 5 1
                Preeclamptic Toxemia 2
                eclampsia 1
                mild pre-eclampsia 1
                severe pre-eclampsia + 15
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 0
      cardiovascular system disease 4416
        vascular disease 3110
          artery disease 2048
            hypertension 1025
              Pregnancy-Induced Hypertension 158
                pre-eclampsia 157
                  Preeclampsia/Eclampsia 1 0
                  Preeclampsia/Eclampsia 2 0
                  Preeclampsia/Eclampsia 3 0
                  Preeclampsia/Eclampsia 4 1
                  Preeclampsia/Eclampsia 5 1
                  Preeclamptic Toxemia 2
                  eclampsia 1
                  mild pre-eclampsia 1
                  severe pre-eclampsia + 15
paths to the root