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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 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP associated with Anemia, Sickle Cell RGD PMID:18272668 RGD:11041760 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		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 IEP protein:decreased activity:plasma (human) RGD PMID:12040478 RGD:10449042 NCBI chr 9:133,414,337...133,459,386
Ensembl chr 9:133,414,358...133,459,402 		JBrowse link
G ASIP agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:32937126 NCBI chr20:34,186,493...34,269,344
Ensembl chr20:34,194,569...34,269,344 		JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8602625 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP associated with Beta-Thalassemia; RGD PMID:15142875 RGD:10450877 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G HFE homeostatic iron regulator susceptibility IAGP DNA:missense mutation:cds:p.C282Y (human) RGD PMID:15834437 RGD:8694354 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343 		JBrowse link
G HMOX1 heme oxygenase 1 ISO RGD PMID:19387321 RGD:4145318 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:blood, liver, lung RGD PMID:23303633 RGD:13204885 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:24583625 RGD:14696752 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G OCLN occludin EXP CTD Direct Evidence: marker/mechanism CTD PMID:17015055 NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104 		JBrowse link
G THBS1 thrombospondin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35357534 NCBI chr15:39,581,079...39,599,466
Ensembl chr15:39,581,079...39,599,466 		JBrowse link
hepatic venoocclusive disease with immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129935748 ATAC-STARR-seq lymphoblastoid active region 17210 IAGP ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome ClinVar PMID:28492532
G SP110 SP110 nuclear body protein IAGP
EXP		 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 veno-occlusive disease-immunodeficiency syndrome | ClinVar Annotator: match by term: Hepatic venoocclusive disease with immunodeficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:16199547 PMID:16648851 PMID:16803959 PMID:16816019 More... NCBI chr 2:230,165,186...230,225,636
Ensembl chr 2:230,165,186...230,225,729 		JBrowse link
G SP140 SP140 nuclear body protein IAGP 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 veno-occlusive disease-immunodeficiency syndrome | ClinVar Annotator: match by term: Hepatic venoocclusive disease with immunodeficiency		 ClinVar PMID:9536098 PMID:16648851 PMID:16803959 PMID:17510920 PMID:17576681 More... NCBI chr 2:230,186,151...230,316,571
Ensembl chr 2:230,203,110...230,313,215 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      cardiovascular system disease 6065
        vascular disease 3857
          Veno-Occlusive Disease 14
            hepatic veno-occlusive disease + 13
paths to the root