Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 chr15:80,255,184...80,257,545
Ensembl chr15:80,255,184...80,257,541
JBrowse link
G Bmpr2 bone morphogenetic protein receptor, type II (serine/threonine kinase) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:59,764,279...59,878,081
Ensembl chr 1:59,763,400...59,879,014
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO protein:increased expression:lung, endothelial cell RGD PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr10:127,290,793...127,296,291
Ensembl chr10:127,290,774...127,296,288
Ensembl chr10:127,290,774...127,296,288
JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr17:78,850,504...78,882,572
Ensembl chr17:78,852,564...78,882,573
JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr 6:70,844,484...70,905,241
Ensembl chr 6:70,844,515...70,905,245
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 PMID:24292273, PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr 2:118,388,583...118,475,234
Ensembl chr 2:118,388,618...118,475,234
JBrowse link
G Erg ETS transcription factor ISO protein:decreased expression:lung RGD PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr16:95,359,169...95,586,600
Ensembl chr16:95,359,169...95,586,593
JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:lung, endothelial cell RGD PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Kcnk3 potassium channel, subfamily K, member 3 ISO RGD PMID:32209028 RGD:38549370 NCBI chr 5:30,588,170...30,625,270
Ensembl chr 5:30,588,170...30,625,271
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 II (serine/threonine kinase) ISO ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1, autosomal dominant OMIM
ClinVar
PMID:11115378, PMID:12446270, PMID:16429395, PMID:16429403, PMID:18626305, PMID:20534176, PMID:26387786 NCBI chr 1:59,764,279...59,878,081
Ensembl chr 1:59,763,400...59,879,014
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 chr 2:118,388,583...118,475,234
Ensembl chr 2:118,388,618...118,475,234
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 ClinVar Annotator: match by OMIM:234810
ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
ClinVar Annotator: match by term: Pulmonary venoocclusive disease 2, autosomal recessive
OMIM
ClinVar
PMID:24033266, PMID:24135949, PMID:24292273, PMID:25512148, PMID:26387786, PMID:32581362 NCBI chr 2:118,388,583...118,475,234
Ensembl chr 2:118,388,618...118,475,234
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13332
    disease of anatomical entity 12813
      cardiovascular system disease 3578
        vascular disease 2594
          pulmonary venoocclusive disease 9
            Pulmonary Venoocclusive Disease 1 2
            Pulmonary Venoocclusive Disease 2 1
Path 2
Term Annotations click to browse term
  disease 13332
    disease of anatomical entity 12813
      cardiovascular system disease 3578
        vascular disease 2594
          artery disease 1691
            hypertension 856
              pulmonary hypertension 289
                pulmonary venoocclusive disease 9
                  Pulmonary Venoocclusive Disease 1 2
                  Pulmonary Venoocclusive Disease 2 1
paths to the root

NHLBI Logo

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