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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:0081269 term browser browse the term
Definition:A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. (DO)
Synonyms:exact_synonym: EIF2AK4-RELATED CONDITION;   Familial Pulmonary Capillary Hemangiomatosis;   PVOD2;   Pulmonary Venoocclusive Disease 2, Autosomal Recessive
 primary_id: MESH:C535861
 alt_id: DOID:9007143;   MIM:234810


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pulmonary venoocclusive disease 2 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: Familial pulmonary capillary hemangiomatosis ClinVar PMID:18626305 PMID:24292273 NCBI chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072 		JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis OMIM
ClinVar		 PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More... NCBI chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15833
    sensory system disease 7065
      eye disease 3622
        orbital disease 99
          capillary hemangioma 28
            pulmonary venoocclusive disease 2 2
Path 2
Term Annotations click to browse term
  disease 15833
    disease of anatomical entity 15489
      nervous system disease 13585
        peripheral nervous system disease 4302
          neuropathy 4113
            neuromuscular disease 3186
              muscular disease 2198
                muscle tissue disease 1335
                  Muscle Tissue Neoplasms 186
                    musculoskeletal system benign neoplasm 128
                      connective tissue benign neoplasm 78
                        bone benign neoplasm 31
                          capillary hemangioma 28
                            pulmonary venoocclusive disease 2 2
paths to the root