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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:HELLP syndrome
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Accession:DOID:13133 term browser browse the term
Definition:A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count. (DO)
Synonyms:exact_synonym: hemolysis, elevated liver enzymes, lowered platelets
 primary_id: MESH:D017359
 xref: EFO:0007297;   GARD:8528;   ICD10CM:O14.2;   NCI:C84750
For additional species annotation, visit the Alliance of Genome Resources.


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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 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687 		JBrowse link
G Ahsp alpha hemoglobin stabilizing protein ISO mRNA:decreased expression:placenta (human) RGD PMID:18347943 RGD:329956422 NCBI chr 1:182,879,901...182,885,508
Ensembl chr 1:182,880,076...182,885,506 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:blood platelet (human) RGD PMID:23241952 RGD:11522719 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:9158311 RGD:1580990 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO
IEP		 DNA:SNP:promoter:-670A>G(rs1800682)(human)
protein,mRNA:altered expression:placenta, liver:		 RGD PMID:30066360 PMID:28501275 RGD:14700669, RGD:14700673 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Faslg Fas ligand susceptibility ISO
IEP		 DNA:SNP:intron:124A>G(rs5030772)(human)
protein:altered expression:blood, placenta, liver:		 RGD PMID:30066360 PMID:28501275 RGD:14700669, RGD:14700673 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    syndrome 11180
      HELLP syndrome 6
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      cardiovascular system disease 5519
        vascular disease 4023
          artery disease 2852
            hypertension 1628
              Pregnancy-Induced Hypertension 163
                pre-eclampsia 162
                  severe pre-eclampsia 16
                    HELLP syndrome 6
paths to the root