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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 chr22:39,514,494...39,522,686
Ensembl chr22:39,519,672...39,522,683
Ensembl chr22:39,519,672...39,522,683
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:202,376,310...202,567,751
Ensembl chr 2:202,376,327...202,567,751
JBrowse link
G DDIT3 DNA damage inducible transcript 3 IEP
ISO
protein:increased expression:lung, endothelial cell RGD PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737
JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr 2:37,099,210...37,157,065
Ensembl chr 2:37,099,210...37,157,065
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr 2:88,556,741...88,627,464
Ensembl chr 2:88,556,741...88,627,464
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 disease_progression EXP
ISO
IEP
CTD Direct Evidence: marker/mechanism
protein:decreased expression:lung
CTD PMID:24292273, PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
JBrowse link
G ERG ETS transcription factor ERG ISO
IEP
protein:decreased expression:lung RGD PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr21:38,367,261...38,661,783
Ensembl chr21:38,380,027...38,661,780
JBrowse link
G HMOX1 heme oxygenase 1 IEP
ISO
protein:increased expression:lung, endothelial cell RGD PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,207
JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 ISO RGD PMID:32209028 RGD:38549370 NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,690...26,733,420
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 IAGP 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 2:202,376,310...202,567,751
Ensembl chr 2:202,376,327...202,567,751
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1, autosomal dominant ClinVar PMID:24033266 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
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 IAGP ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
ClinVar Annotator: match by term: Pulmonary venoocclusive disease 2, autosomal recessive
ClinVar
OMIM
PMID:24033266, PMID:24135949, PMID:24292273, PMID:25512148, PMID:26387786, PMID:32581362 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 16335
      cardiovascular system disease 3839
        vascular disease 2776
          pulmonary venoocclusive disease 9
            Pulmonary Venoocclusive Disease 1 2
            Pulmonary Venoocclusive Disease 2 1
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 16335
      cardiovascular system disease 3839
        vascular disease 2776
          artery disease 1832
            hypertension 934
              pulmonary hypertension 295
                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.