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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:Veno-Occlusive Disease
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Accession:DOID:9004096 term browser browse the term
Synonyms:exact_synonym: venoocclusive disease
 narrow_synonym: venoocclusive disease after bone marrow transplantation, susceptibility to
 primary_id: RDO:9000761
For additional species annotation, visit the Alliance of Genome Resources.


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Veno-Occlusive Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Bb RT1 class II, locus Bb ISO associated with Anemia, Sickle Cell RGD PMID:18272668 RGD:11041760 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
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
Ensembl chr 3:10,300,028...10,346,687 		JBrowse link
G Asip agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:32937126 NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171 		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
Ensembl chr10:83,661,207...83,663,603 		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
Ensembl chr 2:195,649,845...195,655,411 		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
Ensembl 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
Ensembl chr19:13,467,244...13,474,079 		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
Ensembl chr 3:153,683,858...153,692,120 		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
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Ocln occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17015055 NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150 		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 term: Hepatic veno-occlusive disease-immunodeficiency syndrome
ClinVar Annotator: match by term: Hepatic Veno-occlusive Disease with Immunodeficiency
ClinVar Annotator: match by term: Hepatic venoocclusive disease with immunodeficiency
ClinVar Annotator: match by OMIM:235550		 OMIM
ClinVar		 PMID:9536098 PMID:16648851 PMID:16803959 PMID:16816019 PMID:17149599 More... NCBI chr 9:86,200,503...86,225,355
Ensembl chr 9:86,200,503...86,222,670 		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 More... NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17427
    disease of anatomical entity 16758
      cardiovascular system disease 4538
        vascular disease 3457
          Veno-Occlusive Disease 12
            hepatic veno-occlusive disease + 11
paths to the root