Phenotypes associated with the disease Pericardial and diaphragmatic defect (ORPHA:2847):
- Aplasia of the left hemidiaphragm (HP:0009112): Congenital absence of the left half of the diaphragm. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2847)
- Partial diaphragmatic absence of pericardium (HP:0011635): Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2847)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2847)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2847)
- Hypoxemia (HP:0012418): An abnormally low level of blood oxygen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2847)
- Abnormal sternum morphology (HP:0000766): An anomaly of the sternum, also known as the breastbone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2847)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2847)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2847)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2847)
- 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: Occasional (HP:0040283). (ORPHA:2847)
- 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:2847)
- 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: Occasional (HP:0040283). (ORPHA:2847)
- Bicuspid aortic valve (HP:0001647): The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2847)
- Mitral stenosis (HP:0001718): An abnormal narrowing of the orifice of the mitral valve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2847)
- Palpitations (HP:0001962): A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2847)
- Meckel diverticulum (HP:0002245): Meckel's diverticulum is a congenital diverticulum located in the distal ileum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2847)
- Intestinal malrotation (HP:0002566): An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2847)
- Abnormal gastrointestinal tract morphology (HP:0012718): Abnormal structure of the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2847)
- Pulmonary sequestration (HP:0100632): The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2847)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2847)