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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


show annotations for term's descendants           Sort by:
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 chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		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 3:30,697,354...30,736,539
Ensembl chr 3:30,697,942...30,736,540 		JBrowse link
G Asip agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:32937126 NCBI chr 3:163,933,768...164,021,377
Ensembl chr 3:164,015,903...164,021,378 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8602625 NCBI chr10:84,157,485...84,159,860
Ensembl chr10:84,157,211...84,159,860 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with Beta-Thalassemia; RGD PMID:15142875 RGD:10450877 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Hfe homeostatic iron regulator susceptibility ISO DNA:missense mutation:cds:p.C282Y (human) RGD PMID:15834437 RGD:8694354 NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,841,252...41,851,208 		JBrowse link
G Hmox1 heme oxygenase 1 IDA RGD PMID:19387321 RGD:4145318 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP protein:increased expression:blood, liver, lung RGD PMID:23303633 RGD:13204885 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:24583625 RGD:14696752 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Ocln occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17015055 NCBI chr 2:33,391,303...33,442,207
Ensembl chr 2:33,391,303...33,430,411 		JBrowse link
G Thbs1 thrombospondin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35357534 NCBI chr 3:125,510,250...125,525,402
Ensembl chr 3:125,510,250...125,525,402 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hepatic Veno-occlusive Disease with Immunodeficiency | ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome 		CTD
OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16648851 PMID:16803959 PMID:16816019 More... NCBI chr 9:93,648,574...93,673,476
Ensembl chr 9:93,648,575...93,670,659 		JBrowse link
G Sp140 SP140 nuclear body protein ISO ClinVar Annotator: match by term: Hepatic Veno-occlusive Disease with Immunodeficiency | ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome ClinVar PMID:9536098 PMID:16648851 PMID:16803959 PMID:17510920 PMID:17576681 More... NCBI chr 9:93,672,536...93,722,596
Ensembl chr 9:93,667,989...93,722,593 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      cardiovascular system disease 5558
        vascular disease 4039
          Veno-Occlusive Disease 13
            hepatic veno-occlusive disease + 12
paths to the root