- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2140)
- Prominent sternum (HP:0000884). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2140)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2140)
- 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: Frequent (HP:0040282). (ORPHA:2140)
- 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: Frequent (HP:0040282). (ORPHA:2140)
- Aplasia/Hypoplasia of the diaphragm (HP:0010315): Absence or underdevelopment of the diaphragm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2140)
- Hypoxemia (HP:0012418): An abnormally low level of blood oxygen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2140)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2140)
These phenotypes are associated with the disease Congenital diaphragmatic hernia (ORPHA:2140).