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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 2
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Accession:DOID:9007143 term browser browse the term
Synonyms:exact_synonym: Familial Pulmonary Capillary Hemangiomatosis;   PVOD2;   Pulmonary Venoocclusive Disease 2, Autosomal Recessive
 primary_id: MESH:C535861
 alt_id: OMIM:234810;   RDO:0001201
For additional species annotation, visit the Alliance of Genome Resources.


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Pulmonary Venoocclusive Disease 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 2:118,388,583...118,475,234
Ensembl chr 2:118,388,618...118,475,234
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13334
    disease of anatomical entity 12815
      cardiovascular system disease 3579
        vascular disease 2595
          pulmonary venoocclusive disease 9
            Pulmonary Venoocclusive Disease 2 1
Path 2
Term Annotations click to browse term
  disease 13334
    disease of anatomical entity 12815
      nervous system disease 10374
        sensory system disease 4966
          skin disease 2618
            Skin Neoplasms 231
              skin benign neoplasm 50
                skin hemangioma 17
                  capillary hemangioma 15
                    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.