{"Name":"Persistent truncus arteriosus","DiseaseID__c":"GARD:0016627","id":16627,"encodedName":"persistent-truncus-arteriosus","IsDeleted":false,"Disease_Name_Full__c":"Persistent truncus arteriosus","Xref_IDs__c":"787779000; C0041207; C98880; D014339; MEDGEN:52867; MONDO:0018072; ORPHA:3384; Q20.0","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018072","Disease_Description__c":"A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death.","GARD_Name__c":"Persistent truncus arteriosus","GARD_Synonym__c":"common aorticopulmonary trunk; common aortopulmonary trunk; common arterial trunk; common arterial trunk (truncus arteriosus); common truncus arteriosus; persistent truncus arteriosus (disease); tac; truncus arteriosus; truncus arteriosus communis","Curated_Disease_Description_Source__c":"ORPHA:3384","Curated_Disease_Description__c":"Truncus arteriosus (TA) is a rare congenital cardiovascular anomaly characterized by a single arterial trunk arising from the heart by means of a single semilunar valve (i.e. truncal valve). Pulmonary arteries originate from the common arterial trunk distal to the coronary arteries and proximal to the first brachiocephalic branch of the aortic arch. TA typically overrides a large outlet ventricular septal defect (VSD). The intracardiac anatomy usually displays situs solitus and atrioventricular (AV) concordance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:3384","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018072","ORPHANET_ID__c":"ORPHA:3384","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Tronco arterioso común","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"tronco arterioso común","Spanish_GARD_Synonym__c":"tac; tronco aórtico-pulmonar común; truncus arteriosus","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Truncus arteriosus (TA) is a rare congenital cardiovascular anomaly characterized by a single arterial trunk arising from the heart by means of a single semilunar valve (i.e. truncal valve). Pulmonary arteries originate from the common arterial trunk distal to the coronary arteries and proximal to the first brachiocephalic branch of the aortic arch. TA typically overrides a large outlet ventricular septal defect (VSD). The intracardiac anatomy usually displays situs solitus and atrioventricular (AV) concordance.","Curated_Disease_Description_Source__c":"ORPHA:3384","GARD_Synonym__c":"common aorticopulmonary trunk; common aortopulmonary trunk; common arterial trunk; common arterial trunk (truncus arteriosus); common truncus arteriosus; persistent truncus arteriosus (disease); tac; truncus arteriosus; truncus arteriosus communis","Name":"Persistent truncus arteriosus","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Adult Congenital Heart Association","Website__c":"https://www.achaheart.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Congenital Heart Disease","Tag_Category__c":"Specialist","curated_tag_name":"Congenital heart disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3384"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3384"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/3384","Source__c":"C0041207; MONDO:0018072; ORPHA:3384","Xref__c":"ORPHA:3384"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=52867","Source__c":"C0041207","Xref__c":"MEDGEN:52867"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C014339","Source__c":"C0041207; MONDO:0018072","Xref__c":"D014339"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0041207","Source__c":"C0041207","Xref__c":"C0041207"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98880","Source__c":"C0041207; MONDO:0018072","Xref__c":"C98880"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018072","Source__c":"GARD:0016627","Xref__c":"MONDO:0018072"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q20.0","Source__c":"MONDO:0018072","Xref__c":"Q20.0"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001660","Source__c":"C0041207","Xref__c":"HP:0001660"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=61959006","Source__c":"C0041207","Xref__c":"61959006"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=787779000","Source__c":"C0041207","Xref__c":"787779000"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PLXND1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031635","HPO_Synonym__c":"Anomalous origin of the left common carotid artery from the brachiocephalic trunk","HPO_Name__c":"Anomalous origin of the left common carotid artery from the brachiocephalic artery","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001627","HPO_Synonym__c":"Abnormality of cardiac morphology; Abnormality of the heart; Abnormally shaped heart; Cardiac abnormality; Cardiac anomalies; Cardiac anomaly; Congenital heart defect; Congenital heart defects; Heart defect","HPO_Name__c":"Abnormal heart morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any functional abnormality of a cardiac valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031653","HPO_Name__c":"Abnormal heart valve physiology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of a cardiac valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001654","HPO_Synonym__c":"Abnormality of the heart valves; Valvular abnormality","HPO_Name__c":"Abnormal heart valve morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001642","HPO_Synonym__c":"Narrowing of pulmonic valve; Pulmonary stenosis; Pulmonary valve stenosis; Pulmonic valve stenosis","HPO_Name__c":"Pulmonic stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011660","HPO_Synonym__c":"Hemitruncus","HPO_Name__c":"Anomalous origin of one pulmonary artery from ascending aorta","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Non-continuity of the arch of aorta with an atretic point or absent segment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011611","HPO_Synonym__c":"Atretic transverse aortic arch","HPO_Name__c":"Interrupted aortic arch","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Very rapid breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002789","HPO_Synonym__c":"Increased respiratory rate or depth of breathing; Polypnea","HPO_Name__c":"Tachypnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Aorta descends on right instead of on the left.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012020","HPO_Synonym__c":"Right-sided aortic arch","HPO_Name__c":"Right aortic arch","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001643","HPO_Synonym__c":"Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus","HPO_Name__c":"Patent ductus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001667","HPO_Synonym__c":"Heart right ventricle hypertrophy","HPO_Name__c":"Right ventricular hypertrophy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001640","HPO_Synonym__c":"Enlarged heart; Increased heart size","HPO_Name__c":"Cardiomegaly","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001659","HPO_Synonym__c":"Aortic insufficiency; Aortic valve regurgitation","HPO_Name__c":"Aortic regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the coronary arteries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006704","HPO_Name__c":"Abnormal coronary artery morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000849","HPO_Name__c":"Adrenocortical abnormality","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001636","HPO_Synonym__c":"Tetrology of fallot","HPO_Name__c":"Tetralogy of Fallot","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a single coronary artery ostium from which both coronary arteries arise.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011640","HPO_Name__c":"Single coronary artery origin","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A rapid heartrate that exceeds the range of the normal resting heartrate for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001649","HPO_Synonym__c":"Fast heart rate; Heart racing; Racing heart","HPO_Name__c":"Tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004935","HPO_Synonym__c":"Atresia of the pulmonary artery; Pulmonary atresia","HPO_Name__c":"Pulmonary artery atresia","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental defect in the formation of pulmonary lobes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002101","HPO_Synonym__c":"Abnormal pulmonary lobation; Defective lung lobation; Lung segmentation defects","HPO_Name__c":"Abnormal lung lobation","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001629","HPO_Synonym__c":"Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD","HPO_Name__c":"Ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025575","HPO_Name__c":"Abnormal superior vena cava morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004415","HPO_Synonym__c":"Narrowing of lung artery","HPO_Name__c":"Pulmonary artery stenosis","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Fluid accumulation in the lungs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100598","HPO_Synonym__c":"Excess fluid in lungs; Lung edema; Pulmonary edema; Wet lung","HPO_Name__c":"Pulmonary edema","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001669","HPO_Synonym__c":"TGA; TGV; Transposition of great vessels","HPO_Name__c":"Transposition of the great arteries","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the thymus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000778","HPO_Synonym__c":"Small thymus; Thymic hypoplasia; Thymus hypoplasia","HPO_Name__c":"Hypoplasia of the thymus","Feature_System__c":"Endocrine System; Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045060","HPO_Name__c":"Aplasia/hypoplasia involving bones of the extremities","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004971","HPO_Synonym__c":"Underdeveloped lung artery; Underdeveloped pulmonary artery","HPO_Name__c":"Pulmonary artery hypoplasia","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005301","HPO_Synonym__c":"PLSVC","HPO_Name__c":"Persistent left superior vena cava","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002089","HPO_Synonym__c":"Hypoplastic lung; Hypoplastic lungs; Lung hypoplasia; Poorly developed lungs; Small lung; Underdeveloped lung","HPO_Name__c":"Pulmonary hypoplasia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000961","HPO_Synonym__c":"Blue discoloration of the skin","HPO_Name__c":"Cyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001660","HPO_Synonym__c":"Common arterial trunk","HPO_Name__c":"Truncus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3384","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031632","HPO_Synonym__c":"Aberrant right subclavian artery syndrome; Anomalous origin of right subclavian artery; Anomalous origin of the right subclavian artery from the descending aorta; Anomalous right subclavian artery; Arteria lusoria; Lusorian artery","HPO_Name__c":"Aberrant right subclavian artery","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Congenital Heart Disease","Pediatrics"]},"synonyms":["common aorticopulmonary trunk"," common aortopulmonary trunk"," common arterial trunk"," common arterial trunk (truncus arteriosus)"," common truncus arteriosus"," persistent truncus arteriosus (disease)"," tac"," truncus arteriosus"," truncus arteriosus communis"]}