{"orpha":3426,"name":"Double outlet right ventricle","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["DORV"],"definition":"A rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3426/","orphanet_url":"https://www.orpha.net/en/disease/detail/3426","names":{"fr":{"name":"Ventricule droit à double issue","synonyms":["DORV"],"definition":"Anomalie cono-troncale rare dans laquelle l'aorte et l'artère pulmonaire prennent toutes deux naissance, entièrement ou majoritairement, dans le ventricule droit."},"de":{"name":"Doppelausstromventrikel, rechter","synonyms":["DORV"],"definition":"Der Terminus 'Rechter Doppelausstromventrikel'(<i>double outlet right ventricle</i>, DORV) bezeichnet eine seltene konotrunkale Anomalie, bei der sowohl die Aorta als auch die Lungenarterie ganz oder überwiegend aus der morphologischen rechten Herzkammer stammen."},"es":{"name":"Doble salida ventricular derecha","definition":"Es una anomalía conotruncal poco frecuente en la cual, tanto la aorta como la arteria pulmonar se originan, ya sea en su totalidad o predominantemente, en el ventrículo morfológicamente derecho."},"it":{"name":"Ventricolo destro a doppia uscita","synonyms":["DORV"],"definition":"Il ventricolo destro a doppia uscita (DORV) è un difetto tronco-conale raro nel quale sia l'aorta che l'arteria polmonare originano, completamente o in modo predominante, dal ventricolo destro morfologico."},"nl":{"name":"Rechterventrikel met dubbele uitstroom","synonyms":["DORV","Double outlet rechterventrikel"],"definition":"Een zeldzame conotruncale anomalie waarbij zowel aorta als longslagader geheel of grotendeels ontspringen uit morfologisch rechterventrikel."},"pt":{"name":"Ventrículo direito com dupla saída"},"pl":{"name":"Dwuujściowa prawa komora","synonyms":["DORV"]},"cs":{"name":"Dvojvýtoková pravá komora","synonyms":["DORV"]},"uk":{"name":"Подвійне відходження великих артерій від правого шлуночка","synonyms":["DORV"],"definition":"A rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle."},"zh":{"name":"右室双出口","synonyms":["DORV"]},"tr":{"name":"Çift çıkışlı sağ ventrikül","synonyms":["DORV"]}},"xrefs":[{"source":"OMIM","code":"217095","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q20.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA85.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"141717788"},{"source":"MONDO","code":"0018089","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D004310","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0013069","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1908","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10013611","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2445,"name":"Conotruncal heart malformations","classifications":[147,148]},{"orpha":271853,"name":"Genetic cardiac anomaly","classifications":[156]}],"children":[{"orpha":423712,"name":"Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy","type":"Clinical subtype"},{"orpha":99046,"name":"Double outlet right ventricle with non-committed subpulmonary ventricular septal defect","type":"Clinical subtype"},{"orpha":423693,"name":"Double outlet right ventricle with subaortic or doubly committed ventricular septal defect","type":"Clinical subtype"},{"orpha":99043,"name":"Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis","type":"Clinical subtype"},{"orpha":99045,"name":"Double outlet right ventricle with subpulmonary ventricular septal defect","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Germany","status":"Validated","source":"22644696[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-29","source":"23427188[PMID]_25195019[PMID]_3341225[PMID]","terms":[{"hpo":"HP:0001719","label":"Double outlet right ventricle","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:3000022","label":"Abnormality of cartilage of external ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045025","label":"Narrow palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010515","label":"Aplasia/Hypoplasia of the thymus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030853","label":"Heterotaxy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000829","label":"Hypoparathyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004935","label":"Pulmonary artery atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001660","label":"Truncus arteriosus","frequency":"Occasional (29-5%)","criteria":null}]}}