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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:28492532 PMID:32581362 NCBI chr 3:110,159,624...110,245,382
Ensembl chr 3:110,159,708...110,249,217
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17147
    disease of anatomical entity 16492
      respiratory system disease 2872
        Respiratory Tract Neoplasms 823
          Lung Neoplasms 802
            Pulmonary Venoocclusive Disease 2 1
Path 2
Term Annotations click to browse term
  disease 17147
    disease of anatomical entity 16492
      nervous system disease 12092
        sensory system disease 5597
          skin disease 2947
            Skin Neoplasms 250
              skin benign neoplasm 72
                skin hemangioma 16
                  capillary hemangioma 14
                    Pulmonary Venoocclusive Disease 2 1
paths to the root