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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:portal vein thrombosis
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Accession:DOID:11695 term browser browse the term
Definition:A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein. (DO)
Synonyms:xref: ICD10CM:I81;   ICD9CM:452;   NCI:C78565
For additional species annotation, visit the Alliance of Genome Resources.


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portal vein thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II severity ISO associated with liver cirrhosis;protein:increased expression:plasma (human) RGD PMID:28465646 RGD:14985237 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Igf1r insulin-like growth factor 1 receptor susceptibility ISO associated with hepatocellular carcinoma;DNA:SNP:3'UTR:rs3743251(human) RGD PMID:24758241 RGD:14985227 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: :677C>T(human) RGD PMID:27221722, PMID:25987440 RGD:14696705, RGD:14696749 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:25987440 RGD:14696749 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      endocrine system disease 0
        liver disease 2413
          hepatic vascular disease 64
            portal vein thrombosis 4
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      cardiovascular system disease 4424
        vascular disease 3354
          Embolism and Thrombosis 159
            thrombosis 139
              Venous Thrombosis 85
                portal vein thrombosis 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.