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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:A pulmonary hypertension that is characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension. (DO)
Comment:OMIM has split this term into two subtypes. (DO)
Synonyms:exact_synonym: PVOD;   pulmonary veno-occlusive disease;   pulmonary veno-occlusive diseases;   pulmonary venoocclusive diseases
 primary_id: MESH:D011668
 xref: GARD:10153;   MIM:PS265450;   NCI:C85039;   ORDO:31837
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 IEP protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr 7:111,804,135...111,806,457
Ensembl chr 7:111,804,183...111,806,446 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO
IEP		 protein:increased expression:lung, endothelial cell RGD PMID:32209028 PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201 		JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 IEP protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971 		JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 IEP protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911 		JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 disease_progression ISO
IEP		 protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:24292273 PMID:32209028 PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630 		JBrowse link
G Erg ETS transcription factor ERG IEP
ISO		 protein:decreased expression:lung RGD PMID:32209028 PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr11:34,678,614...34,900,951
Ensembl chr11:34,678,618...34,845,871 		JBrowse link
G Hmox1 heme oxygenase 1 ISO
IEP		 protein:increased expression:lung, endothelial cell RGD PMID:32209028 PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 IDA RGD PMID:32209028 RGD:38549370 NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153 		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 ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1 OMIM
ClinVar		 PMID:3291115 PMID:10903931 PMID:11115378 PMID:12045205 PMID:12446270 More... NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809 		JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1 ClinVar PMID:24033266 NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630 		JBrowse link
pulmonary venoocclusive disease 2 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 ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar PMID:18626305 PMID:24292273 NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809 		JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis OMIM
ClinVar		 PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More... NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      respiratory system disease 5221
        lower respiratory tract disease 2352
          lung disease 2314
            pulmonary hypertension 420
              pulmonary venoocclusive disease 9
                pulmonary venoocclusive disease 1 2
                pulmonary venoocclusive disease 2 2
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      cardiovascular system disease 5519
        vascular disease 4023
          artery disease 2852
            hypertension 1628
              pulmonary hypertension 420
                pulmonary venoocclusive disease 9
                  pulmonary venoocclusive disease 1 2
                  pulmonary venoocclusive disease 2 2
paths to the root