pericardial and diaphragmatic defect
MONDO:0017301Mondo
Findings
No curated finding names pericardial and diaphragmatic defect yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect.
Definition from the Mondo Disease Ontology (MONDO:0017301), read 2026-09-29. CC BY 4.0.
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aplasia of the left hemidiaphragmHPOHP:0009112
- Obligate (100% of cases)
- Partial diaphragmatic absence of pericardiumHPOHP:0011635
- Obligate (100% of cases)
- HypoxemiaHPOHP:0012418
- Frequent (30% to 79% of cases)
- Neonatal respiratory distressHPOHP:0002643
- Frequent (30% to 79% of cases)
- Pulmonary hypoplasiaHPOHP:0002089
- Frequent (30% to 79% of cases)
- Abnormal gastrointestinal tract morphologyHPOHP:0012718
- Occasional (5% to 29% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Occasional (5% to 29% of cases)
- Abnormal sternum morphologyHPOHP:0000766
- Occasional (5% to 29% of cases)
- Atrial septal defectHPOHP:0001631
- Occasional (5% to 29% of cases)
- Bicuspid aortic valveHPOHP:0001647
- Occasional (5% to 29% of cases)
- Chest painHPOHP:0100749
- Occasional (5% to 29% of cases)
- Congenital diaphragmatic herniaHPOHP:0000776
- Occasional (5% to 29% of cases)
Show the remaining 8
- Intestinal malrotationHPOHP:0002566
- Occasional (5% to 29% of cases)
- Meckel diverticulumHPOHP:0002245
- Occasional (5% to 29% of cases)
- Mitral stenosisHPOHP:0001718
- Occasional (5% to 29% of cases)
- PalpitationsHPOHP:0001962
- Occasional (5% to 29% of cases)
- Patent ductus arteriosusHPOHP:0001643
- Occasional (5% to 29% of cases)
- Pectus excavatumHPOHP:0000767
- Occasional (5% to 29% of cases)