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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:severe pre-eclampsia
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Accession:DOID:13129 term browser browse the term
Definition:A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption. (DO)
Synonyms:exact_synonym: antepartum severe pre-eclampsia;   postpartum severe pre-eclampsia;   severe pre-eclampsia, with delivery;   severe preeclampsia
 xref: ICD9CM:642.50
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 chr2B:44,994,175...45,133,490
Ensembl chr2B:162,234,823...162,297,805 		JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 susceptibility ISO DNA:polymorphism::p.D148E (human) RGD PMID:24619222 RGD:401850778 NCBI chr14:1,329,745...1,332,315
Ensembl chr14:19,381,911...19,384,542 		JBrowse link
G COL4A2 collagen type IV alpha 2 chain severity ISO mRNA:increased expression:decidua basalis (human) RGD PMID:24331737 RGD:329845529 NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 severity ISO mRNA:increased expression:decidua basalis (human) RGD PMID:24331737 RGD:329845529 NCBI chr 5:92,061,414...92,119,087
Ensembl chr 5:97,641,353...97,668,365 		JBrowse link
G ERAP2 endoplasmic reticulum aminopeptidase 2 severity ISO mRNA:increased expression:decidua basalis (human) RGD PMID:24331737 RGD:329845529 NCBI chr 5:92,186,786...92,231,020
Ensembl chr 5:97,741,678...97,785,071 		JBrowse link
G GPX3 glutathione peroxidase 3 ISO protein:increased expression:plasma RGD PMID:8476834 RGD:401827852 NCBI chr 5:146,447,939...146,456,476 JBrowse link
G LNPEP leucyl and cystinyl aminopeptidase severity ISO mRNA:increased expression:decidua basalis (human) RGD PMID:24331737 RGD:329845529 NCBI chr 5:92,247,060...92,348,900
Ensembl chr 5:97,842,110...97,893,876 		JBrowse link
G RBP4 retinol binding protein 4 severity ISO protein:decreased expression:blood serum (human)
protein:increased expression:blood serum (human)		 RGD PMID:19573524 PMID:27279411 PMID:31949674 RGD:329845847 RGD:329845853 RGD:329845859 NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887 		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 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707 		JBrowse link
G AHSP alpha hemoglobin stabilizing protein ISO mRNA:decreased expression:placenta (human) RGD PMID:18347943 RGD:329956422 NCBI chr16:23,436,746...23,438,184
Ensembl chr16:31,897,868...31,899,143 		JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:blood platelet (human) RGD PMID:23241952 RGD:11522719 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:9158311 RGD:1580990 NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862 		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 chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612 		JBrowse link
G FASLG Fas ligand susceptibility ISO protein:altered expression:blood, placenta, liver:
DNA:SNP:intron:124A>G(rs5030772)(human)		 RGD PMID:28501275 PMID:30066360 RGD:14700669 RGD:14700673 NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Urogenital Diseases 4727
        Female Urogenital Diseases and Pregnancy Complications 2329
          Pregnancy Complications 726
            Pregnancy-Induced Hypertension 144
              pre-eclampsia 143
                severe pre-eclampsia 14
                  HELLP syndrome 6
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      cardiovascular system disease 4333
        vascular disease 3043
          artery disease 2010
            hypertension 1003
              Pregnancy-Induced Hypertension 144
                pre-eclampsia 143
                  severe pre-eclampsia 14
                    HELLP syndrome 6
paths to the root