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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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711 		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 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8602625 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with Beta-Thalassemia; RGD PMID:15142875 RGD:10450877 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306 		JBrowse link
G Hfe homeostatic iron regulator susceptibility ISO DNA:missense mutation:cds:p.C282Y (human) RGD PMID:15834437 RGD:8694354 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985 		JBrowse link
G Hmox1 heme oxygenase 1 IDA RGD PMID:19387321 RGD:4145318 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP protein:increased expression:blood, liver, lung RGD PMID:23303633 RGD:13204885 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:24583625 RGD:14696752 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910 		JBrowse link
G Ocln occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17015055 NCBI chr 2:30,527,327...30,577,218
Ensembl chr 2:30,527,715...30,577,218 		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 with Immunodeficiency
ClinVar Annotator: match by term: Hepatic venoocclusive disease with immunodeficiency
ClinVar Annotator: match by OMIM:235550		 OMIM
ClinVar		 PMID:16648851 PMID:16803959 PMID:19780822 PMID:21536091 PMID:22621957 PMID:24033266 PMID:25741868 PMID:27577878 PMID:28492532 NCBI chr 9:92,593,909...92,618,867
Ensembl chr 9:92,593,910...92,616,165 		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:16648851 PMID:16803959 PMID:21536091 PMID:22621957 PMID:24033266 PMID:25741868 PMID:27577878 PMID:28492532 NCBI chr 9:92,618,088...92,665,431
Ensembl chr 9:92,618,352...92,665,430 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      cardiovascular system disease 4399
        vascular disease 3323
          Veno-Occlusive Disease 11
            hepatic veno-occlusive disease + 10
paths to the root