{"orpha":31837,"name":"Pulmonary venoocclusive disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis","url":"https://raremap.alftech.space/d/ORPHA-31837/","orphanet_url":"https://www.orpha.net/en/disease/detail/31837","names":{"fr":{"name":"Maladie veino-occlusive pulmonaire"},"de":{"name":"Pulmonale veno-okklusive Krankheit","synonyms":["PVOD"]},"es":{"name":"Enfermedad veno-oclusiva pulmonar"},"it":{"name":"Malattia veno-occlusiva polmonare"},"nl":{"name":"Pulmonale veno-occlusieve ziekte"},"pt":{"name":"Doença venoclusiva pulmonar"},"pl":{"name":"Zarostowa choroba żył płucnych"},"cs":{"name":"Plicní venookluzivní nemoc"},"uk":{"name":"Легенева венооклюзивна хвороба"},"zh":{"name":"肺静脉闭塞病"},"tr":{"name":"Pulmoner venoklüzif hastalık"}},"xrefs":[{"source":"OMIM","code":"265450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"J98.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BB01.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1368993024"},{"source":"MONDO","code":"0009937","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D011668","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0034091","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10153","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10037458","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":431353,"name":"Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis","classifications":[156,184]}],"children":[],"genes":[{"symbol":"BMPR2","name":"bone morphogenetic protein receptor type 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"12446270[PMID]_18626305[PMID]","hgnc":"1078","ensembl":"ENSG00000204217","omim":"600799","loci":["2q33.1-q33.2"]},{"symbol":"EIF2AK4","name":"eukaryotic translation initiation factor 2 alpha kinase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24292273[PMID]","hgnc":"19687","ensembl":"ENSG00000128829","omim":"609280","loci":["15q15.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.015,"area":"Europe","status":"Validated","source":"16456139[PMID]_21510732[PMID]_ [EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.015,"area":"France","status":"Validated","source":"21510732[PMID]_16456139[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":null}