- Anomalous origin of right pulmonary artery from ascending aorta (HP:0005143): The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99050)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99050)
- Cyanosis (HP:0000961): Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99050)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99050)
- Atrial septal defect (HP:0001631): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99050)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99050)
- Patent ductus arteriosus (HP:0001643): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99050)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99050)
- Exertional dyspnea (HP:0002875): Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99050)
- Left-to-right shunt (HP:0012382): Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99050)
- Left ventricular outflow tract obstruction (HP:0032092): Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99050)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99050)
- Tetralogy of Fallot (HP:0001636): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99050)
- Transposition of the great arteries (HP:0001669): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99050)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99050)
- Aortopulmonary window (HP:0011604): A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99050)
- Anomalous origin of left pulmonary artery from ascending aorta (HP:0011661): The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99050)
- Abnormal aortic arch morphology (HP:0012303): An anomaly of the arch of aorta. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99050)
- Heart murmur (HP:0030148): An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99050)
- Aberrant right subclavian artery (HP:0031632): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99050)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99050)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99050)
- Hypoplastic left ventricle (HP:0004383): A severe congenital heart defect characterized by underdevelopment of the left ventricle. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99050)
- Pulmonary artery atresia (HP:0004935): A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99050)
- Right aortic arch (HP:0012020): Aorta descends on right instead of on the left. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99050)
- Abnormal descending aorta morphology (HP:0031934): A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99050)
These phenotypes are associated with the disease Abnormal origin of right or left pulmonary artery from the aorta (ORPHA:99050).