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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
 xref: EFO:0000666;   GARD:8229;   ICD10CM:K76.6;   ICD9CM:572.3;   NCI:C3119;   OMIM:PS617068
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
portal hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm adrenomedullin IDA mRNA:increased expression:liver RGD PMID:15086360 RGD:1625304 NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO associated with Liver Cirrhosis, Experimental RGD PMID:11832453 RGD:1626153 NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139 		JBrowse link
G Angpt2 angiopoietin 2 ISO RGD PMID:19070926 RGD:2314171 NCBI chr 8:18,740,279...18,791,578
Ensembl chr 8:18,740,279...18,791,578 		JBrowse link
G Arrb2 arrestin, beta 2 treatment 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 chr11:70,323,051...70,331,654
Ensembl chr11:70,323,461...70,331,654 		JBrowse link
G Avp arginine vasopressin ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:6696534 PMID:18987488 RGD:2301924 NCBI chr 2:130,422,540...130,424,508
Ensembl chr 2:130,422,540...130,424,474 		JBrowse link
G Avpr1a arginine vasopressin receptor 1A ISO associated with Liver Cirrhosis;mRNA:increased expression:liver, artery RGD PMID:12641544 RGD:2300334 NCBI chr10:122,284,404...122,289,358
Ensembl chr10:122,284,404...122,289,357 		JBrowse link
G Bdkrb2 bradykinin receptor, beta 2 ISO RGD PMID:19950773 RGD:4891055 NCBI chr12:105,529,431...105,561,503
Ensembl chr12:105,529,485...105,561,496 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO associated with biliary atresia; RGD PMID:17161183 RGD:14995924 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 treatment ISO
IMP		 protein:increased expression:mesentary RGD PMID:26627607 PMID:26627607 RGD:11528851, RGD:11528851 NCBI chr 7:80,996,774...81,105,207
Ensembl chr 7:80,996,774...81,105,213 		JBrowse link
G Cpeb4 cytoplasmic polyadenylation element binding protein 4 treatment ISO
IMP		 protein:increased expression:mesentary RGD PMID:26627607 PMID:26627607 RGD:11528851, RGD:11528851 NCBI chr11:31,820,911...31,885,635
Ensembl chr11:31,822,211...31,885,634 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:21347560 RGD:9491791 NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:21347560 RGD:9491791 NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945 		JBrowse link
G Dbh dopamine beta hydroxylase ISO protein:decreased expression:mesenteric artery (rat) RGD PMID:19968782 RGD:5129480 NCBI chr 2:27,055,519...27,073,216
Ensembl chr 2:27,055,245...27,073,212 		JBrowse link
G Ddc dopa decarboxylase ISO mRNA:decreased expression:superior mesenteric artery (rat) RGD PMID:18457899 RGD:5129683 NCBI chr11:11,764,101...11,848,144
Ensembl chr11:11,764,101...11,848,144 		JBrowse link
G Dguok deoxyguanosine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:83,457,199...83,483,887
Ensembl chr 6:83,457,199...83,483,951 		JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO mRNA, protein:increased expression:stomach mucosa
protein:increased expression:gastric mucosa		 RGD PMID:11758828 PMID:11679970 RGD:2298677, RGD:401976388 NCBI chr17:26,724,565...26,727,446
Ensembl chr17:26,724,564...26,781,102 		JBrowse link
G Edn1 endothelin 1 ISO RGD PMID:17214938 RGD:4892595 NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466 		JBrowse link
G Ednra endothelin receptor type A ISO RGD PMID:17214938 RGD:4892595 NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093 		JBrowse link
G Ednrb endothelin receptor type B ISO RGD PMID:17214938 RGD:4892595 NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838 		JBrowse link
G F5 coagulation factor V IEP associated with Acute Hepatitis;protein:decreased expression:serum (human) RGD PMID:2777210 RGD:14700665 NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO mRNA, protein:decreased expression:esophagus mucosa (rat) RGD PMID:8644008 RGD:155882599 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Gch1 GTP cyclohydrolase 1 treatment ISO associated with liver cirrhosis RGD PMID:35004731 RGD:329961333 NCBI chr14:47,391,352...47,426,870
Ensembl chr14:47,391,352...47,426,870 		JBrowse link
G Gimap5 GTPase, IMAP family member 5 ISO ClinVar Annotator: match by term: Portal hypertension ClinVar PMID:25741868 PMID:29382851 PMID:33956074 PMID:35753512 NCBI chr 6:48,723,131...48,731,134
Ensembl chr 6:48,723,131...48,731,144 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 treatment ISO protein:increased expression:endothelial cell, liver sinusoid RGD PMID:16142243 PMID:25469036 RGD:1580269, RGD:13514048 NCBI chr19:4,336,029...4,356,356
Ensembl chr19:4,336,029...4,356,250 		JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:16830363 RGD:1582701 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Hsp90aa1 heat shock protein 90, alpha (cytosolic), class A member 1 ISO mRNA:decreased expression:stomach (rat) RGD PMID:19383083 RGD:5686823 NCBI chr12:110,657,470...110,662,829
Ensembl chr12:110,657,039...110,669,162 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:15951934 RGD:1626634 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Jak2 Janus kinase 2 severity IMP associated with liver cirrhosis RGD PMID:26385087 RGD:18337263 NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO protein:increased phosphorylation:gastric mucosa RGD PMID:11259371 RGD:401976386 NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317 		JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment ISO associated with Liver Cirrhosis RGD PMID:24404143 RGD:10041031 NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140 		JBrowse link
G Ngfr nerve growth factor receptor (TNFR superfamily, member 16) ISO protein:increased expression:superior mesenteric ganglion RGD PMID:22292477 RGD:10414081 NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561 		JBrowse link
G Nos1 nitric oxide synthase 1, neuronal treatment ISO associated with liver cirrhosis RGD PMID:10727442 RGD:13824993 NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell treatment ISO associated with Liver Cirrhosis, Biliary
CTD Direct Evidence: therapeutic
mRNA:increased expression:aorta (rat)		 CTD
RGD		 PMID:18070013 PMID:16142243 PMID:29263339 PMID:10889169 RGD:1580269, RGD:13504710, RGD:7794685 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 treatment ISO associated with Cholestasis RGD PMID:24497272 RGD:10448995 NCBI chr11:98,658,758...98,666,233
Ensembl chr11:98,658,758...98,666,159 		JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 treatment ISO associated with liver cirrhosis;mRNA:altered expression:liver (rat) RGD PMID:19418582 RGD:15042868 NCBI chr10:89,290,096...89,369,484
Ensembl chr10:89,290,096...89,369,447 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO protein:altered localization, increased tyrosine phosphorylation:plasma membrane, stomach mucosa RGD PMID:11826414 RGD:1625216 NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725 		JBrowse link
G Prkcd protein kinase C, delta ISO mRNA:decreased expression:spleen, macrophage RGD PMID:17659678 RGD:1642521 NCBI chr14:30,317,310...30,348,637
Ensembl chr14:30,317,311...30,348,167 		JBrowse link
G Prl prolactin ISO protein:decreased expression:plasma RGD PMID:17119344 RGD:1642556 NCBI chr13:27,241,553...27,249,187
Ensembl chr13:27,241,553...27,249,188 		JBrowse link
G Pten phosphatase and tensin homolog ISO RGD PMID:14525948 RGD:1581280 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:17876871 RGD:1642587 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Ren1 renin 1 structural ISO RGD PMID:12854169 RGD:1580698 NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063 		JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO protein:increased expression:gastric wall (rat) RGD PMID:22024088 RGD:8655539 NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527 		JBrowse link
G Th tyrosine hydroxylase ISO mRNA:decreased expression:superior mesenteric artery (rat) RGD PMID:19968782 RGD:5129480 NCBI chr 7:142,446,516...142,453,732
Ensembl chr 7:142,446,489...142,484,865 		JBrowse link
G Timp2 tissue inhibitor of metalloproteinase 2 ISO associated with Liver Cirrhosis, Experimental RGD PMID:17351970 RGD:2290408 NCBI chr11:118,191,887...118,246,237
Ensembl chr11:118,191,887...118,246,566 		JBrowse link
G Tmem67 transmembrane protein 67 ISO associated with Joubert syndrome 6;DNA:mutations:multiple (human) RGD PMID:29112083 RGD:329951005 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020 		JBrowse link
G Tnf tumor necrosis factor treatment ISO 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 chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Vash1 vasohibin 1 disease_progression
treatment		 ISO RGD PMID:24390792 PMID:24390792 RGD:15003198, RGD:15003198 NCBI chr12:86,725,474...86,742,462
Ensembl chr12:86,725,474...86,738,865 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: therapeutic
protein:increased expression:mesentary		 CTD
RGD		 PMID:18416461 PMID:26627607 RGD:11528851 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Xdh xanthine dehydrogenase ISO protein:alternative form:jejunum RGD PMID:10562591 RGD:13209137 NCBI chr17:74,190,890...74,257,191
Ensembl chr17:74,190,890...74,257,191 		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 chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Itgb3 integrin beta 3 ISO DNA:missense mutation: :p.L33P (human) RGD PMID:18685811 RGD:10755472 NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:18685811 RGD:10755472 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:18685811 RGD:10755472 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		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 chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
G Sst somatostatin ISO CTD Direct Evidence: therapeutic CTD PMID:1385068 NCBI chr16:23,708,327...23,710,041
Ensembl chr16:23,708,323...23,709,708 		JBrowse link
Noncirrhotic Portal Hypertension 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase ISO ClinVar Annotator: match by term: Portal hypertension, noncirrhotic, 1 ClinVar PMID:11983456 PMID:17073823 PMID:17452231 PMID:18205204 PMID:23043144 More... NCBI chr 6:83,457,199...83,483,887
Ensembl chr 6:83,457,199...83,483,951 		JBrowse link
Noncirrhotic Portal Hypertension 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gimap5 GTPase, IMAP family member 5 ISO ClinVar Annotator: match by term: Portal hypertension, noncirrhotic, 2 OMIM
ClinVar		 PMID:25741868 PMID:29382851 PMID:33956074 PMID:35753512 NCBI chr 6:48,723,131...48,731,134
Ensembl chr 6:48,723,131...48,731,144 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      cardiovascular system disease 4559
        vascular disease 3236
          hepatic vascular disease 71
            portal hypertension 55
              Banti's Syndrome 4
              Cavernous Transformation of Portal Vein 0
              Noncirrhotic Portal Hypertension 1 1
              Noncirrhotic Portal Hypertension 2 1
              esophageal varix 2
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      gastrointestinal system disease 6748
        hepatobiliary disease 3053
          liver disease 2939
            hepatic vascular disease 71
              portal hypertension 55
                Banti's Syndrome 4
                Cavernous Transformation of Portal Vein 0
                Noncirrhotic Portal Hypertension 1 1
                Noncirrhotic Portal Hypertension 2 1
                esophageal varix 2
paths to the root