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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:Budd-Chiari syndrome
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Accession:DOID:11512 term browser browse the term
Definition:A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon.
Synonyms:exact_synonym: BDCHS;   Chiari Syndrome;   Chiari's Syndrome;   Chiaris Syndrome;   Hepatic Vein Thromboses;   Hepatic Vein Thrombosis;   Hepatic Venous Outflow Obstruction
 narrow_synonym: MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA;   MOVC
 primary_id: MESH:D006502;   RDO:0005774
 alt_id: OMIM:600880
 xref: ICD10CM:I82.0
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G F5 coagulation factor V severity
susceptibility
disease_progression
ISO ClinVar Annotator: match by OMIM:600880
ClinVar Annotator: match by term: Budd-Chiari syndrome
associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human)
DNA:missense mutation:cds:R506Q (human)
OMIM
ClinVar
PMID:11950065, PMID:16246256, PMID:19486170, PMID:24033266, PMID:25741868, PMID:28492532, PMID:31064749, PMID:29771426, PMID:16825912, PMID:9245936, PMID:26238013 RGD:14700660, RGD:14700661, RGD:15036813, RGD:11537993 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
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 chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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 chr 1:247,473,292...247,476,827
Ensembl chr 1:247,473,292...247,476,827
JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Budd-Chiari syndrome
ClinVar Annotator: match by OMIM:600880
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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 chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
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 chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Budd-Chiari syndrome 6
        Membranous Obstruction of Inferior Vena Cava 0
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      cardiovascular system disease 4454
        vascular disease 3386
          Embolism and Thrombosis 159
            thrombosis 139
              Venous Thrombosis 85
                Budd-Chiari syndrome 6
                  Membranous Obstruction of Inferior Vena Cava 0
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.