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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 hypertension
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Accession:DOID:10762 term browser browse the term
Definition:Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN.
Synonyms:exact_synonym: Cruveilhier Baumgarten Syndrome;   NCPH
 primary_id: MESH:D006975
 alt_id: RDO:0003817
 xref: GARD:8229;   ICD10CM:K76.6;   ICD9CM:572.3;   NCI:C3119
For additional species annotation, visit the Alliance of Genome Resources.


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portal hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm adrenomedullin ISO mRNA:increased expression:liver RGD PMID:15086360 RGD:1625304 NCBI chr 1:164,745,484...164,747,655 JBrowse link
G Alox5 arachidonate 5-lipoxygenase IDA associated with Liver Cirrhosis, Experimental RGD PMID:11832453 RGD:1626153 NCBI chr 4:149,531,329...149,578,696 JBrowse link
G Angpt2 angiopoietin 2 IDA RGD PMID:19070926 RGD:2314171 NCBI chr16:71,088,364...71,138,805 JBrowse link
G Arrb2 arrestin, beta 2 treatment IEP
ISO
associated with Liver Cirrhosis, Experimental
associated with Liver Cirrhosis;protein:increased expression:mesenteric artery
RGD PMID:24719556, PMID:24337852 RGD:13506899, RGD:13506901 NCBI chr10:55,146,887...55,154,854 JBrowse link
G Avp arginine vasopressin IMP
ISO
CTD Direct Evidence: therapeutic CTD PMID:6696534, PMID:18987488 RGD:2301924 NCBI chr 3:117,793,447...117,805,091 JBrowse link
G Avpr1a arginine vasopressin receptor 1A ISO associated with Liver Cirrhosis;mRNA:increased expression:liver, artery RGD PMID:12641544 RGD:2300334 NCBI chr 7:58,114,306...58,118,230 JBrowse link
G Bdkrb2 bradykinin receptor B2 IMP RGD PMID:19950773 RGD:4891055 NCBI chr 6:124,472,317...124,502,497 JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO associated with biliary atresia; RGD PMID:17161183 RGD:14995924 NCBI chr10:67,005,424...67,007,222 JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 treatment IEP
ISO
protein:increased expression:mesentary RGD PMID:26627607, PMID:26627607 RGD:11528851, RGD:11528851 NCBI chr 1:135,300,048...135,407,688 JBrowse link
G Cpeb4 cytoplasmic polyadenylation element binding protein 4 treatment ISO protein:increased expression:mesentary RGD PMID:26627607, PMID:26627607 RGD:11528851, RGD:11528851 NCBI chr10:15,717,794...15,780,482 JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:21347560 RGD:9491791 NCBI chr19:10,227,337...10,237,826 JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP RGD PMID:21347560 RGD:9491791 NCBI chr 8:119,785,726...119,799,431 JBrowse link
G Dbh dopamine beta-hydroxylase IEP protein:decreased expression:mesenteric artery (rat) RGD PMID:19968782 RGD:5129480 NCBI chr 3:10,488,260...10,505,245 JBrowse link
G Ddc dopa decarboxylase IEP mRNA:decreased expression:superior mesenteric artery (rat) RGD PMID:18457899 RGD:5129683 NCBI chr14:86,378,685...86,469,189 JBrowse link
G Dguok deoxyguanosine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:115,987,101...116,014,733 JBrowse link
G Dusp1 dual specificity phosphatase 1 IEP mRNA, protein:increased expression:stomach mucosa RGD PMID:11758828 RGD:2298677 NCBI chr10:16,680,489...16,683,276 JBrowse link
G Edn1 endothelin 1 IDA RGD PMID:17214938 RGD:4892595 NCBI chr17:22,454,924...22,460,812 JBrowse link
G Ednra endothelin receptor type A IMP RGD PMID:17214938 RGD:4892595 NCBI chr19:30,233,540...30,303,727 JBrowse link
G Ednrb endothelin receptor type B IMP RGD PMID:17214938 RGD:4892595 NCBI chr15:80,640,839...80,672,115 JBrowse link
G F5 coagulation factor V IEP associated with Acute Hepatitis;protein:decreased expression:serum (human) RGD PMID:2777210 RGD:14700665 NCBI chr13:76,513,463...76,583,106 JBrowse link
G Grk2 G protein-coupled receptor kinase 2 treatment IEP protein:increased expression:endothelial cell, liver sinusoid RGD PMID:16142243, PMID:25469036 RGD:1580269, RGD:13514048 NCBI chr 1:201,581,480...201,601,580 JBrowse link
G Hmox1 heme oxygenase 1 IDA RGD PMID:16830363 RGD:1582701 NCBI chr19:13,466,287...13,474,082 JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 IEP mRNA:decreased expression:stomach (rat) RGD PMID:19383083 RGD:5686823 NCBI chr 6:129,702,376...129,707,907 JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:serum RGD PMID:15951934 RGD:1626634 NCBI chr 3:116,577,005...116,583,386 JBrowse link
G Jak2 Janus kinase 2 severity IMP associated with liver cirrhosis RGD PMID:26385087 RGD:18337263 NCBI chr 1:226,995,334...227,054,381 JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment IMP associated with Liver Cirrhosis RGD PMID:24404143 RGD:10041031 NCBI chr 5:158,884,856...158,994,311 JBrowse link
G Ngfr nerve growth factor receptor IEP protein:increased expression:superior mesenteric ganglion RGD PMID:22292477 RGD:10414081 NCBI chr10:80,515,287...80,533,518 JBrowse link
G Nos1 nitric oxide synthase 1 treatment IDA associated with liver cirrhosis RGD PMID:10727442 RGD:13824993 NCBI chr12:38,615,111...38,795,492 JBrowse link
G Nos3 nitric oxide synthase 3 treatment IDA
IEP
ISO
associated with Liver Cirrhosis, Biliary
CTD Direct Evidence: therapeutic
mRNA:increased expression:aorta (rat)
CTD PMID:18070013, PMID:16142243, PMID:29263339, PMID:10889169 RGD:1580269, RGD:13504710, RGD:7794685 NCBI chr 4:10,793,834...10,814,170 JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 treatment IEP associated with Cholestasis RGD PMID:24497272 RGD:10448995 NCBI chr10:83,728,348...83,735,562 JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 treatment IMP associated with liver cirrhosis;mRNA:altered expression:liver (rat) RGD PMID:19418582 RGD:15042868 NCBI chr 7:23,846,122...23,942,085 JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 IDA protein:altered localization, increased tyrosine phosphorylation:plasma membrane, stomach mucosa RGD PMID:11826414 RGD:1625216 NCBI chr 2:32,878,942...32,963,611 JBrowse link
G Prkcd protein kinase C, delta ISO mRNA:decreased expression:spleen, macrophage RGD PMID:17659678 RGD:1642521 NCBI chr16:5,769,226...5,807,214 JBrowse link
G Prl prolactin IDA protein:decreased expression:plasma RGD PMID:17119344 RGD:1642556 NCBI chr17:37,859,999...37,870,062 JBrowse link
G Pten phosphatase and tensin homolog IDA RGD PMID:14525948 RGD:1581280 NCBI chr 1:230,631,303...230,696,754 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:17876871 RGD:1642587 NCBI chr13:62,164,080...62,169,770 JBrowse link
G Ren renin ISO RGD PMID:12854169 RGD:1580698 NCBI chr13:44,796,260...44,807,491 JBrowse link
G Serpinf1 serpin family F member 1 IEP protein:increased expression:gastric wall (rat) RGD PMID:22024088 RGD:8655539 NCBI chr10:60,250,198...60,262,593 JBrowse link
G Th tyrosine hydroxylase IEP mRNA:decreased expression:superior mesenteric artery (rat) RGD PMID:19968782 RGD:5129480 NCBI chr 1:198,071,500...198,078,832 JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 IMP associated with Liver Cirrhosis, Experimental RGD PMID:17351970 RGD:2290408 NCBI chr10:103,541,199...103,590,611 JBrowse link
G Tnf tumor necrosis factor treatment IEP
IMP
mRNA:increased expression:stomach (rat) RGD PMID:9834372, PMID:9198288, PMID:10070045, PMID:9537427, PMID:7875478 RGD:14688051, RGD:14995426, RGD:14995425, RGD:14985259, RGD:14975128 NCBI chr20:3,622,011...3,624,629 JBrowse link
G Vash1 vasohibin 1 disease_progression
treatment
IEP
ISO
RGD PMID:24390792, PMID:24390792 RGD:15003198, RGD:15003198 NCBI chr 6:106,330,374...106,345,740 JBrowse link
G Vegfa vascular endothelial growth factor A ISO
IEP
CTD Direct Evidence: therapeutic
protein:increased expression:mesentary
CTD PMID:18416461, PMID:26627607 RGD:11528851 NCBI chr 9:14,955,300...14,970,641 JBrowse link
G Xdh xanthine dehydrogenase IEP protein:alternative form:jejunum RGD PMID:10562591 RGD:13209137 NCBI chr 6:21,530,463...21,592,172 JBrowse link
Banti's Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO protein:increased expression:serum (human) RGD PMID:21290180 RGD:25671452 NCBI chr10:90,910,316...90,930,437 JBrowse link
G Itgb3 integrin subunit beta 3 ISO DNA:missense mutation: :p.L33P (human) RGD PMID:18685811 RGD:10755472 NCBI chr10:89,509,917...89,564,679 JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:18685811 RGD:10755472 NCBI chr 5:158,465,248...158,484,999 JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:18685811 RGD:10755472 NCBI chr12:19,601,272...19,611,657 JBrowse link
esophageal varix term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO associated with ascites RGD PMID:8664482 RGD:1601159 NCBI chr14:17,607,397...17,622,814 JBrowse link
G Sst somatostatin ISO CTD Direct Evidence: therapeutic CTD PMID:1385068 NCBI chr11:76,956,896...76,958,173 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17160
    disease of anatomical entity 16500
      endocrine system disease 5809
        liver disease 2450
          portal hypertension 50
            Banti's Syndrome 4
            Cavernous Transformation of Portal Vein 0
            esophageal varix 2
Path 2
Term Annotations click to browse term
  disease 17160
    disease of anatomical entity 16500
      gastrointestinal system disease 6063
        hepatobiliary disease 2548
          liver disease 2450
            hepatic vascular disease 63
              portal hypertension 50
                Banti's Syndrome 4
                Cavernous Transformation of Portal Vein 0
                esophageal varix 2
paths to the root