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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.



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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 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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
RGD
PMID:11950065 PMID:16246256 PMID:19486170 PMID:24033266 PMID:25741868 More... RGD:14700660, RGD:14700661, RGD:15036813, RGD:11537993 NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
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 More... NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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 More... NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    syndrome 8170
      Budd-Chiari syndrome 5
        Membranous Obstruction of Inferior Vena Cava 0
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      cardiovascular system disease 4525
        vascular disease 3439
          Embolism and Thrombosis 157
            thrombosis 138
              Venous Thrombosis 85
                Budd-Chiari syndrome 5
                  Membranous Obstruction of Inferior Vena Cava 0
paths to the root