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
Accession: DOID:11512
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 .
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
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
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
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
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
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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all