congenital diaphragmatic hernia
Findings
No curated finding names congenital diaphragmatic hernia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.
Definition from the Mondo Disease Ontology (MONDO:0005711), read 2026-09-29. CC BY 4.0.
Features
8 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.
- Congenital diaphragmatic herniaHPOHP:0000776
- Very frequent (80% to 99% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the diaphragmHPOHP:0010315
- Frequent (30% to 79% of cases)
- HypoxemiaHPOHP:0012418
- Frequent (30% to 79% of cases)
- Intestinal malrotationHPOHP:0002566
- Frequent (30% to 79% of cases)
- Prominent sternumHPOHP:0000884
- Frequent (30% to 79% of cases)
- Pulmonary hypoplasiaHPOHP:0002089
- Frequent (30% to 79% of cases)
- Respiratory distressHPOHP:0002098
- Frequent (30% to 79% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
1 name
Resolves to: congenital diaphragmatic hernia
- Also called
- CDH