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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.


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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 associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human)
DNA:missense mutation:cds:R506Q (human)
ClinVar Annotator: match by term: Budd-Chiari syndrome		 ClinVar
OMIM
RGD		 PMID:11950065 PMID:16246256 PMID:19486170 PMID:24033266 PMID:25741868 More... RGD:14700660, RGD:14700661, RGD:15036813, RGD:11537993 NCBI chr13:76,513,463...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:15920007 PMID:16081687 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15781101 PMID:15793561 PMID:15858187 PMID:15920007 PMID:16081687 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 21089
    syndrome 10784
      Budd-Chiari syndrome 5
        Membranous Obstruction of Inferior Vena Cava 0
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      cardiovascular system disease 5299
        vascular disease 3867
          Embolism and Thrombosis 160
            thrombosis 142
              Venous Thrombosis 84
                Budd-Chiari syndrome 5
                  Membranous Obstruction of Inferior Vena Cava 0
paths to the root