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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:hepatic vascular disease
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Accession:DOID:272 term browser browse the term
Definition:A vascular disease that is located_in the liver. (DO)
Synonyms:exact_synonym: vascular disorder of liver
 primary_id: RDO:9002801
 xref: NCI:C35442
For additional species annotation, visit the Alliance of Genome Resources.


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Banti's Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb3 integrin subunit beta 3 ISO DNA:missense mutation: :p.L33P (human) RGD PMID:18685811 RGD:10755472 NCBI chrNW_004955478:9,788,192...9,830,254 JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:18685811 RGD:10755472 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:18685811 RGD:10755472 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
JBrowse link
Budd-Chiari syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO protein: decreased expression: plasma (human) RGD PMID:21145806 RGD:25671435 NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298
JBrowse link
G F5 coagulation factor V susceptibility
severity
disease_progression
ISO DNA:missense mutation:cds:R506Q (human)
Factor V Leiden;DNA:missense mutation:cds:G1691A (human)
associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human)
OMIM
RGD
PMID:9245936, PMID:16825912, PMID:26238013, PMID:29771426 RGD:11537993, RGD:14700660, RGD:14700661, RGD:15036813 NCBI chrNW_004955462:7,695,004...7,757,832
Ensembl chrNW_004955462:7,694,939...7,757,463
JBrowse link
G F7 coagulation factor VII ISO ClinVar Annotator: match by term: Budd-Chiari syndrome ClinVar PMID:7981691, PMID:10862079, PMID:11931672, PMID:15456489, PMID:15735798, PMID:18282149, PMID:22180436, PMID:25582404, PMID:25741868, PMID:30311386, PMID:31064749 NCBI chrNW_004955404:685,170...692,797
Ensembl chrNW_004955404:680,594...693,665
JBrowse link
G Insl6 insulin like 6 ISO ClinVar Annotator: match by term: Budd-Chiari syndrome ClinVar PMID:15781101, PMID:15793561, PMID:15858187, PMID:16081687, PMID:16247455, PMID:16293597, PMID:16325696, PMID:16603627, PMID:16707754, PMID:16709929, PMID:16762626, PMID:17989398, PMID:18256599, PMID:18394554, PMID:19036091, PMID:19287384, PMID:19293426, PMID:20339092, PMID:20631743, PMID:20703299, PMID:21120162, PMID:21689158, PMID:22041374, PMID:22422826, PMID:22571758, PMID:22818858, PMID:22829971, PMID:23115274, PMID:24404189, PMID:24986690, PMID:25043017, PMID:25157968, PMID:25671252, PMID:25741868, PMID:32581362 NCBI chrNW_004955434:9,349,033...9,355,817
Ensembl chrNW_004955434:9,349,142...9,355,739
JBrowse link
G Jak2 Janus kinase 2 ISO OMIM NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:transition: :677C>T (human)
DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)
RGD PMID:12221667, PMID:26238013 RGD:10449395, RGD:11537993 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
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 chrNW_004955447:9,327...21,212 JBrowse link
hepatic veno-occlusive disease 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:12040478 RGD:10449042 NCBI chrNW_004955513:2,761,386...2,786,447
Ensembl chrNW_004955513:2,764,186...2,786,187
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8602625 NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
JBrowse link
G F7 coagulation factor VII ISO ClinVar Annotator: match by term: Hepatic veno-occlusive disease ClinVar PMID:7981691, PMID:10862079, PMID:11931672, PMID:15456489, PMID:15735798, PMID:18282149, PMID:22180436, PMID:25582404, PMID:25741868, PMID:30311386, PMID:31064749 NCBI chrNW_004955404:685,170...692,797
Ensembl chrNW_004955404:680,594...693,665
JBrowse link
G Hfe homeostatic iron regulator susceptibility ISO DNA:missense mutation:cds:p.C282Y (human) RGD PMID:15834437 RGD:8694354 NCBI chrNW_004955483:933,269...941,070
Ensembl chrNW_004955483:932,352...941,143
JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:19387321 RGD:4145318 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
JBrowse link
G Insl6 insulin like 6 ISO ClinVar Annotator: match by term: Hepatic veno-occlusive disease ClinVar PMID:15781101, PMID:15793561, PMID:15858187, PMID:16081687, PMID:16247455, PMID:16293597, PMID:16325696, PMID:16603627, PMID:16707754, PMID:16709929, PMID:16762626, PMID:17989398, PMID:18256599, PMID:18394554, PMID:19036091, PMID:19287384, PMID:19293426, PMID:20339092, PMID:20631743, PMID:20703299, PMID:21120162, PMID:21689158, PMID:22041374, PMID:22422826, PMID:22571758, PMID:22818858, PMID:22829971, PMID:23115274, PMID:24404189, PMID:24986690, PMID:25043017, PMID:25157968, PMID:25671252, PMID:25741868, PMID:32581362 NCBI chrNW_004955434:9,349,033...9,355,817
Ensembl chrNW_004955434:9,349,142...9,355,739
JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Hepatic veno-occlusive disease ClinVar PMID:15781101, PMID:15793561, PMID:15858187, PMID:16081687, PMID:16247455, PMID:16293597, PMID:16325696, PMID:16603627, PMID:16707754, PMID:16709929, PMID:16762626, PMID:17989398, PMID:18256599, PMID:18394554, PMID:19036091, PMID:19287384, PMID:19293426, PMID:20339092, PMID:20631743, PMID:20703299, PMID:21120162, PMID:21689158, PMID:22041374, PMID:22422826, PMID:22571758, PMID:22818858, PMID:22829971, PMID:23115274, PMID:24404189, PMID:24986690, PMID:25043017, PMID:25157968, PMID:25671252, PMID:25741868, PMID:32581362 NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:blood, liver, lung RGD PMID:23303633 RGD:13204885 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:24583625 RGD:14696752 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
JBrowse link
G Ocln occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17015055 NCBI chrNW_004955575:163,646...210,379 JBrowse link
Hepatic Venoocclusive Disease with Immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sp110 SP110 nuclear body protein ISO OMIM NCBI chrNW_004955453:4,915,541...4,939,438 JBrowse link
G Sp140 SP140 nuclear body protein ISO ClinVar Annotator: match by term: Hepatic venoocclusive disease with immunodeficiency
ClinVar Annotator: match by term: Hepatic Veno-occlusive Disease with Immunodeficiency
ClinVar PMID:16648851, PMID:16803959, PMID:21536091, PMID:22621957, PMID:24033266, PMID:27577878, PMID:28492532 NCBI chrNW_004955453:4,864,812...4,911,699 JBrowse link
peliosis hepatis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2rl3 F2R like thrombin or trypsin receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974703 NCBI chrNW_004955524:1,045,493...1,047,924
Ensembl chrNW_004955524:1,044,792...1,047,819
JBrowse link
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 chrNW_004955414:25,951,473...25,953,593
Ensembl chrNW_004955414:25,951,349...25,953,645
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO associated with Liver Cirrhosis, Experimental RGD PMID:11832453 RGD:1626153 NCBI chrNW_004955546:2,495,226...2,550,909
Ensembl chrNW_004955546:2,494,819...2,550,909
JBrowse link
G Angpt2 angiopoietin 2 ISO RGD PMID:19070926 RGD:2314171 NCBI chrNW_004955403:54,139,823...54,193,740
Ensembl chrNW_004955403:54,139,823...54,195,032
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:24337852, PMID:24719556 RGD:13506899, RGD:13506901 NCBI chrNW_004955467:10,109,985...10,118,687
Ensembl chrNW_004955467:10,110,003...10,123,022
JBrowse link
G Avpr1a arginine vasopressin receptor 1A ISO associated with Liver Cirrhosis;mRNA:increased expression:liver, artery RGD PMID:12641544 RGD:2300334 NCBI chrNW_004955458:10,245,325...10,253,209
Ensembl chrNW_004955458:10,245,111...10,253,209
JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO RGD PMID:19950773 RGD:4891055 NCBI chrNW_004955438:16,514,300...16,537,160
Ensembl chrNW_004955438:16,511,759...16,537,172
JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 treatment ISO protein:increased expression:mesentary RGD PMID:26627607 RGD:11528851 NCBI chrNW_004955416:13,963,300...14,038,691
Ensembl chrNW_004955416:13,981,657...14,039,705
JBrowse link
G Cpeb4 cytoplasmic polyadenylation element binding protein 4 treatment ISO protein:increased expression:mesentary RGD PMID:26627607 RGD:11528851 NCBI chrNW_004955408:26,535,281...26,597,317
Ensembl chrNW_004955408:26,535,281...26,597,547
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:21347560 RGD:9491791 NCBI chrNW_004955433:15,023,272...15,034,650
Ensembl chrNW_004955433:15,023,050...15,034,711
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:21347560 RGD:9491791 NCBI chrNW_004955427:24,691,206...24,705,599
Ensembl chrNW_004955427:24,701,073...24,707,230
JBrowse link
G Dbh dopamine beta-hydroxylase ISO protein:decreased expression:mesenteric artery (rat) RGD PMID:19968782 RGD:5129480 NCBI chrNW_004955513:2,918,085...2,932,481
Ensembl chrNW_004955513:2,918,286...2,932,247
JBrowse link
G Ddc dopa decarboxylase ISO mRNA:decreased expression:superior mesenteric artery (rat) RGD PMID:18457899 RGD:5129683 NCBI chrNW_004955456:3,513,779...3,582,851
Ensembl chrNW_004955456:3,513,042...3,582,911
JBrowse link
G Dguok deoxyguanosine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955424:11,739,904...11,773,884
Ensembl chrNW_004955424:11,738,859...11,773,902
JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO mRNA, protein:increased expression:stomach mucosa RGD PMID:11758828 RGD:2298677 NCBI chrNW_004955408:25,481,294...25,484,381
Ensembl chrNW_004955408:25,481,294...25,484,381
JBrowse link
G Edn1 endothelin 1 ISO RGD PMID:17214938 RGD:4892595 NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753
JBrowse link
G Ednra endothelin receptor type A ISO RGD PMID:17214938 RGD:4892595 NCBI chrNW_004955428:3,062,303...3,114,761
Ensembl chrNW_004955428:3,062,303...3,114,761
JBrowse link
G Ednrb endothelin receptor type B ISO RGD PMID:17214938 RGD:4892595 NCBI chrNW_004955404:29,394,253...29,425,358
Ensembl chrNW_004955404:29,394,164...29,425,358
JBrowse link
G F5 coagulation factor V ISO associated with Acute Hepatitis;protein:decreased expression:serum (human) RGD PMID:2777210 RGD:14700665 NCBI chrNW_004955462:7,695,004...7,757,832
Ensembl chrNW_004955462:7,694,939...7,757,463
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:13514048, RGD:1580269 NCBI chrNW_004955422:18,173,438...18,192,357
Ensembl chrNW_004955422:18,170,616...18,192,412
JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:16830363 RGD:1582701 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO mRNA:decreased expression:stomach (rat) RGD PMID:19383083 RGD:5686823 NCBI chrNW_004955538:1,469,544...1,475,010 JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:15951934 RGD:1626634 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Jak2 Janus kinase 2 severity ISO associated with liver cirrhosis RGD PMID:26385087 RGD:18337263 NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208
JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment ISO associated with Liver Cirrhosis RGD PMID:24404143 RGD:10041031 NCBI chrNW_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694
JBrowse link
G Ngfr nerve growth factor receptor ISO protein:increased expression:superior mesenteric ganglion RGD PMID:22292477 RGD:10414081 NCBI chrNW_004955451:12,030,303...12,047,305
Ensembl chrNW_004955451:12,030,252...12,047,305
JBrowse link
G Nos1 nitric oxide synthase 1 treatment ISO associated with liver cirrhosis RGD PMID:10727442 RGD:13824993 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566
JBrowse link
G Nos3 nitric oxide synthase 3 treatment ISO mRNA:increased expression:aorta (rat)
associated with Liver Cirrhosis, Biliary
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:10889169, PMID:16142243, PMID:18070013, PMID:29263339 RGD:13504710, RGD:1580269, RGD:7794685 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
JBrowse link
G Nr1d1 nuclear receptor subfamily 1 group D member 1 treatment ISO associated with Cholestasis RGD PMID:24497272 RGD:10448995 NCBI chrNW_004955451:14,743,763...14,750,903
Ensembl chrNW_004955451:14,742,735...14,750,999
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 chrNW_004955405:36,160,360...36,236,258
Ensembl chrNW_004955405:36,160,049...36,237,751
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 chrNW_004955446:1,020,707...1,098,327
Ensembl chrNW_004955446:1,020,043...1,098,820
JBrowse link
G Prkcd protein kinase C delta ISO mRNA:decreased expression:spleen, macrophage RGD PMID:17659678 RGD:1642521 NCBI chrNW_004955430:3,125,066...3,151,857
Ensembl chrNW_004955430:3,124,738...3,153,274
JBrowse link
G Prl prolactin ISO protein:decreased expression:plasma RGD PMID:17119344 RGD:1642556 NCBI chrNW_004955483:4,495,257...4,503,377 JBrowse link
G Pten phosphatase and tensin homolog ISO RGD PMID:14525948 RGD:1581280 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:17876871 RGD:1642587 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
JBrowse link
G Ren renin ISO RGD PMID:12854169 RGD:1580698 NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:increased expression:gastric wall (rat) RGD PMID:22024088 RGD:8655539 NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241
JBrowse link
G Th tyrosine hydroxylase ISO mRNA:decreased expression:superior mesenteric artery (rat) RGD PMID:19968782 RGD:5129480 NCBI chrNW_004955422:13,943,590...13,951,102
Ensembl chrNW_004955422:13,943,552...13,951,137
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO associated with Liver Cirrhosis, Experimental RGD PMID:17351970 RGD:2290408 NCBI chrNW_004955506:3,769,113...3,812,896
Ensembl chrNW_004955506:3,768,646...3,813,820
JBrowse link
G Tnf tumor necrosis factor treatment ISO mRNA:increased expression:stomach (rat) RGD PMID:7875478, PMID:9198288, PMID:9537427, PMID:9834372, PMID:10070045 RGD:14688051, RGD:14975128, RGD:14985259, RGD:14995425, RGD:14995426 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Vash1 vasohibin 1 treatment
disease_progression
ISO RGD PMID:24390792 RGD:15003198 NCBI chrNW_004955438:753,392...772,937
Ensembl chrNW_004955438:752,554...772,937
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 chrNW_004955437:9,527,445...9,541,908 JBrowse link
portal vein thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II, thrombin severity ISO associated with liver cirrhosis;protein:increased expression:plasma (human) RGD PMID:28465646 RGD:14985237 NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517
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 chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: :677C>T(human) RGD PMID:25987440, PMID:27221722 RGD:14696705, RGD:14696749 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:25987440 RGD:14696749 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11834
    disease of anatomical entity 11389
      cardiovascular system disease 3152
        vascular disease 2261
          hepatic vascular disease 58
            Budd-Chiari syndrome + 6
            hemangioma of liver 0
            hepatic infarction 0
            hepatic veno-occlusive disease + 12
            liver angiosarcoma + 0
            nutmeg liver 0
            peliosis hepatis 1
            portal hypertension + 45
            portal vein thrombosis 4
Path 2
Term Annotations click to browse term
  disease 11834
    disease of anatomical entity 11389
      gastrointestinal system disease 3761
        hepatobiliary disease 0
          liver disease 2028
            hepatic vascular disease 58
              Budd-Chiari syndrome + 6
              hemangioma of liver 0
              hepatic infarction 0
              hepatic veno-occlusive disease + 12
              liver angiosarcoma + 0
              nutmeg liver 0
              peliosis hepatis 1
              portal hypertension + 45
              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.