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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:0081268 term browser browse the term
Definition:A pulmonary venoocclusive disease that has_material_basis_in heterozygous mutation in the BMPR2 gene on chromosome 2q33. (DO)
Synonyms:exact_synonym: PVOD1;   pulmonary veno-occlusive disease 1;   pulmonary venoocclusive disease 1, autosomal dominant
 broad_synonym: BMPR2-RELATED CONDITION;   BMPR2-RELATED DISORDER
 primary_id: OMIM:265450
 alt_id: DOID:9007133


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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 2 ISO ClinVar Annotator: match by term: BMPR2-related condition | ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1 OMIM
ClinVar		 PMID:3291115 PMID:10903931 PMID:11115378 PMID:11502704 PMID:12045205 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal dominant disease 6235
                pulmonary venoocclusive disease 1 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      cardiovascular system disease 5404
        vascular disease 4006
          artery disease 2820
            hypertension 1727
              pulmonary hypertension 414
                pulmonary venoocclusive disease 9
                  pulmonary venoocclusive disease 1 2
paths to the root