Phenotypes associated with the disease Bronchopulmonary dysplasia (ORPHA:70589):
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:70589)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:70589)
- Abnormal lung morphology (HP:0002088): Any structural anomaly of the lung. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:70589)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:70589)
- Emphysema (HP:0002097). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:70589)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:70589)
- Respiratory failure requiring assisted ventilation (HP:0004887): A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:70589)
- Chronic lung disease (HP:0006528): According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:70589)
- Hyperoxemia (HP:0012419): An abnormally high level of blood oxygen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:70589)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:70589)
- Subglottic stenosis (HP:0001607). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:70589)
- Right ventricular hypertrophy (HP:0001667): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:70589)
- Right ventricular failure (HP:0001708): Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:70589)
- Sleep disturbance (HP:0002360): An abnormal pattern in the quality, quantity, or characteristics of sleep. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:70589)
- Bronchomalacia (HP:0002780): Weakness or softness of the cartilage in the walls of the bronchial tubes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:70589)
- Abnormal respiratory system physiology (HP:0002795): Abnormal function of the respiratory system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:70589)
- Central apnea (HP:0002871): Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:70589)
- Exercise intolerance (HP:0003546): A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70589)
- Elevated pulmonary artery pressure (HP:0004890): An abnormally elevated blood pressure in the circulation of the pulmonary artery. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:70589)
- Airway obstruction (HP:0006536): Obstruction of conducting airways of the lung. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:70589)
- Diaphragmatic paralysis (HP:0006597): The presence of a paralyzed diaphragm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:70589)
- Abnormal respiratory system morphology (HP:0012252): A structural anomaly of the respiratory system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:70589)
- Wheezing (HP:0030828): A high-pitched whistling sound associated with labored breathing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:70589)
- Tracheobronchomalacia (HP:0002786): Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70589)
- Abnormality on pulmonary function testing (HP:0030878): Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70589)
- 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:70589)
- Atelectasis (HP:0100750): Collapse of part of a lung associated with absence of inflation (air) of that part. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:70589)