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
Accession: DOID:5453
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 .
G
Atf4
activating transcription factor 4
IEP
protein:increased expression:lung
RGD
PMID:32209028
RGD:38549370
NCBI chr 7:121,480,723...121,482,781
Ensembl chr 7:121,480,723...121,482,772
G
Bmpr2
bone morphogenetic protein receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
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 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
G
Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
IEP
protein:increased expression:lung
RGD
PMID:32209028
RGD:38549370
NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
G
Eif2ak3
eukaryotic translation initiation factor 2 alpha kinase 3
IEP
protein:increased expression:lung
RGD
PMID:32209028
RGD:38549370
NCBI chr 4:98,648,513...98,709,695
Ensembl chr 4:98,648,545...98,709,694
G
Eif2ak4
eukaryotic translation initiation factor 2 alpha kinase 4
disease_progression
ISO IEP
CTD Direct Evidence: marker/mechanism protein:decreased expression:lung
CTD
PMID:24292273 , PMID:32209028 , PMID:32209028
RGD:38549370 , RGD:38549370
NCBI chr 3:110,159,624...110,245,382
Ensembl chr 3:110,159,708...110,249,217
G
Erg
ETS transcription factor ERG
IEP ISO
protein:decreased expression:lung
RGD
PMID:32209028 , PMID:32209028
RGD:38549370 , RGD:38549370
NCBI chr11:35,645,317...35,749,637
Ensembl chr11:35,646,116...35,749,594
G
Hmox1
heme oxygenase 1
ISO IEP
protein:increased expression:lung, endothelial cell
RGD
PMID:32209028 , PMID:32209028
RGD:38549370 , RGD:38549370
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
G
Kcnk3
potassium two pore domain channel subfamily K member 3
IDA
RGD
PMID:32209028
RGD:38549370
NCBI chr 6:27,154,274...27,190,209
Ensembl chr 6:27,151,612...27,190,132
G
Bmpr2
bone morphogenetic protein receptor type 2
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:25741868 PMID:26387786
NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
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 3:110,159,624...110,245,382
Ensembl chr 3:110,159,708...110,249,217
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 3:110,159,624...110,245,382
Ensembl chr 3:110,159,708...110,249,217
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