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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:pulmonary venoocclusive disease
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Accession:DOID:5453 term browser browse the term
Definition:Pathological process resulting in the fibrous obstruction of the small- and medium-sized PULMONARY VEINS and PULMONARY HYPERTENSION. Veno-occlusion can arise from fibrous proliferation of the VASCULAR INTIMA and VASCULAR MEDIA; THROMBOSIS; or a combination of both.
Synonyms:exact_synonym: PVOD;   Pulmonary Veno-Occlusive Disease;   pulmonary veno-occlusive diseases;   pulmonary venoocclusive diseases
 primary_id: MESH:D011668
 alt_id: RDO:0006442
 xref: GARD:10153;   NCI:C85039;   OMIM:PS265450
For additional species annotation, visit the Alliance of Genome Resources.


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pulmonary venoocclusive disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf4 activating transcription factor 4 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chrNW_004955413:25,406,589...25,408,727 JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955457:12,235,780...12,315,680 JBrowse link
G Ddit3 DNA damage inducible transcript 3 ISO protein:increased expression:lung
protein:increased expression:lung, endothelial cell
RGD PMID:32209028 RGD:38549370 NCBI chrNW_004955458:5,232,979...5,238,513 JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chrNW_004955441:4,908,318...4,944,343 JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chrNW_004955424:210,867...279,267 JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 disease_progression ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:lung
CTD
RGD
PMID:24292273, PMID:32209028 RGD:38549370 NCBI chrNW_004955416:6,897,897...7,005,602 JBrowse link
G Erg ETS transcription factor ERG ISO protein:decreased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chrNW_004955407:37,372,471...37,613,674 JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:lung, endothelial cell RGD PMID:32209028 RGD:38549370 NCBI chrNW_004955405:43,124,447...43,128,873 JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO RGD PMID:32209028 RGD:38549370 NCBI chrNW_004955469:8,710,749...8,744,423 JBrowse link
Pulmonary Venoocclusive Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr2 bone morphogenetic protein receptor type 2 ISO OMIM NCBI chrNW_004955457:12,235,780...12,315,680 JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1, autosomal dominant ClinVar PMID:24033266 NCBI chrNW_004955416:6,897,897...7,005,602 JBrowse link
Pulmonary Venoocclusive Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO OMIM NCBI chrNW_004955416:6,897,897...7,005,602 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11810
    disease of anatomical entity 11364
      cardiovascular system disease 3147
        vascular disease 2256
          pulmonary venoocclusive disease 9
            Pulmonary Venoocclusive Disease 1 2
            Pulmonary Venoocclusive Disease 2 1
Path 2
Term Annotations click to browse term
  disease 11810
    disease of anatomical entity 11364
      cardiovascular system disease 3147
        vascular disease 2256
          artery disease 1510
            hypertension 759
              pulmonary hypertension 264
                pulmonary venoocclusive disease 9
                  Pulmonary Venoocclusive Disease 1 2
                  Pulmonary Venoocclusive Disease 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.