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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 hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion. (DO)
Synonyms:exact_synonym: BDCHS;   Chiari Syndrome;   Chiari's syndrome;   Chiaris syndrome;   Hepatic Vein Thromboses;   Hepatic Vein Thrombosis;   hepatic venous outflow obstruction
 narrow_synonym: MOVC;   membranous obstruction of inferior vena cava
 primary_id: MESH:D006502
 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 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G F5 coagulation factor V severity
susceptibility
disease_progression
ISO associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human)
DNA:missense mutation:cds:R506Q (human)
ClinVar Annotator: match by term: Budd-Chiari syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:11950065 PMID:16246256 PMID:19486170 PMID:24033266 PMID:25741868 More... RGD:14700660, RGD:14700661, RGD:15036813, RGD:11537993 NCBI chr13:76,513,509...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:15837627 PMID:15858187 PMID:15920007 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Budd-Chiari syndrome
OMIM
CTD
ClinVar
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 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 21128
    syndrome 10832
      Budd-Chiari syndrome 5
        Membranous Obstruction of Inferior Vena Cava 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      cardiovascular system disease 5404
        vascular disease 4006
          Embolism and Thrombosis 171
            thrombosis 147
              Venous Thrombosis 90
                Budd-Chiari syndrome 5
                  Membranous Obstruction of Inferior Vena Cava 0
paths to the root