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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.


show annotations for term's descendants           Sort by:
 
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 chr22:20,426,743...20,428,892
Ensembl chr22:38,248,094...38,249,249
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072
JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO protein:increased expression:lung, endothelial cell RGD PMID:32209028 RGD:38549370 NCBI chr12:31,406,332...31,410,293
Ensembl chr12:31,664,743...31,668,701
JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr2A:37,130,386...37,184,587
Ensembl chr2A:37,895,814...37,941,686
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr2A:87,688,732...87,759,580
Ensembl chr2A:89,596,833...89,667,468
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 chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211
JBrowse link
G ERG ETS transcription factor ERG ISO protein:decreased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr21:24,737,829...25,016,378
Ensembl chr21:38,087,339...38,281,403
JBrowse link
G HMOX1 heme oxygenase 1 ISO protein:increased expression:lung
protein:increased expression:lung, endothelial cell
RGD PMID:32209028 RGD:38549370 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 ISO RGD PMID:32209028 RGD:38549370 NCBI chr2A:26,688,938...26,729,860
Ensembl chr2A:26,780,475...26,819,123
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 chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072
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 chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211
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 chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12749
    disease of anatomical entity 12279
      cardiovascular system disease 3300
        vascular disease 2374
          pulmonary venoocclusive disease 9
            Pulmonary Venoocclusive Disease 1 2
            Pulmonary Venoocclusive Disease 2 1
Path 2
Term Annotations click to browse term
  disease 12749
    disease of anatomical entity 12279
      cardiovascular system disease 3300
        vascular disease 2374
          artery disease 1590
            hypertension 806
              pulmonary hypertension 275
                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.