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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:hepatic veno-occlusive disease
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Accession:DOID:0080177 term browser browse the term
Definition:Liver disease that is caused by injuries to the ENDOTHELIAL CELLS of the vessels and subendothelial EDEMA, but not by THROMBOSIS. Extracellular matrix, rich in FIBRONECTINS, is usually deposited around the HEPATIC VEINS leading to venous outflow occlusion and sinusoidal obstruction.
Synonyms:exact_synonym: hepatic veno-occlusive diseases;   sinusoidal obstruction syndrome
 primary_id: MESH:D006504
 alt_id: RDO:0003058
 xref: GARD:13004;   ICD10CM:K76.5
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
hepatic veno-occlusive disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO protein:decreased activity:plasma (human) RGD PMID:12040478 RGD:10449042 NCBI chr 3:10,299,264...10,338,464 JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8602625 NCBI chr10:83,660,787...83,664,569 JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with Beta-Thalassemia; RGD PMID:15142875 RGD:10450877 NCBI chr 2:195,649,845...195,655,402 JBrowse link
G Hfe homeostatic iron regulator susceptibility ISO DNA:missense mutation:cds:p.C282Y (human) RGD PMID:15834437 RGD:8694354 NCBI chr17:41,413,451...41,421,502 JBrowse link
G Hmox1 heme oxygenase 1 IDA RGD PMID:19387321 RGD:4145318 NCBI chr19:13,466,287...13,474,082 JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP protein:increased expression:blood, liver, lung RGD PMID:23303633 RGD:13204885 NCBI chr 3:153,684,158...153,692,118 JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:24583625 RGD:14696752 NCBI chr 5:158,465,248...158,484,999 JBrowse link
G Ocln occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17015055 NCBI chr 2:31,657,217...31,707,466 JBrowse link
hepatic venoocclusive disease with immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sp110 SP110 nuclear body protein ISO ClinVar Annotator: match by OMIM:235550
ClinVar Annotator: match by term: Hepatic venoocclusive disease with immunodeficiency
ClinVar Annotator: match by term: Hepatic Veno-occlusive Disease with Immunodeficiency
ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome		 OMIM
ClinVar		 PMID:9536098 PMID:16648851 PMID:16803959 PMID:16816019 PMID:17149599 PMID:17576681 PMID:19780822 PMID:21536091 PMID:22621957 PMID:24033266 PMID:25741868 PMID:27577878 PMID:28492532 NCBI chr 9:86,200,503...86,225,355 JBrowse link
G Sp140 SP140 nuclear body protein ISO ClinVar Annotator: match by term: Hepatic venoocclusive disease with immunodeficiency
ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome
ClinVar Annotator: match by term: Hepatic Veno-occlusive Disease with Immunodeficiency		 ClinVar PMID:9536098 PMID:16648851 PMID:16803959 PMID:17576681 PMID:21536091 PMID:22621957 PMID:24033266 PMID:25741868 PMID:27577878 PMID:28492532 NCBI chr 9:86,224,472...86,274,724 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17160
    disease of anatomical entity 16500
      cardiovascular system disease 4504
        vascular disease 3425
          hepatic vascular disease 63
            hepatic veno-occlusive disease 10
              hepatic venoocclusive disease with immunodeficiency 2
Path 2
Term Annotations click to browse term
  disease 17160
    disease of anatomical entity 16500
      gastrointestinal system disease 6063
        hepatobiliary disease 2548
          liver disease 2450
            hepatic vascular disease 63
              hepatic veno-occlusive disease 10
                hepatic venoocclusive disease with immunodeficiency 2
paths to the root