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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 1
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Accession:DOID:9007133 term browser browse the term
Synonyms:exact_synonym: PVOD1;   pulmonary veno-occlusive disease 1;   pulmonary venoocclusive disease 1, autosomal dominant
 primary_id: OMIM:265450
For additional species annotation, visit the Alliance of Genome Resources.


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Pulmonary Venoocclusive Disease 1 term browser
Symbol Object Name 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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13400
    disease of anatomical entity 12876
      cardiovascular system disease 3586
        vascular disease 2601
          pulmonary venoocclusive disease 9
            Pulmonary Venoocclusive Disease 1 2
Path 2
Term Annotations click to browse term
  disease 13400
    disease of anatomical entity 12876
      cardiovascular system disease 3586
        vascular disease 2601
          artery disease 1699
            hypertension 865
              pulmonary hypertension 295
                pulmonary venoocclusive disease 9
                  Pulmonary Venoocclusive Disease 1 2
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.