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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 8:50,525,091...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 16085
    syndrome 7041
      Budd-Chiari syndrome 6
        Membranous Obstruction of Inferior Vena Cava 0
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      cardiovascular system disease 4413
        vascular disease 3342
          Embolism and Thrombosis 158
            thrombosis 139
              Venous Thrombosis 85
                Budd-Chiari syndrome 6
                  Membranous Obstruction of Inferior Vena Cava 0
paths to the root