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Congenital diaphragmatic hernia

4 OMIM references -
3 associated genes
28 connected diseases
1 sign/symptom

Disease	Type of connection
Tetralogy of Fallot
Atrial septal defect, ostium secundum type
Complete atrioventricular canal - ventricle hypoplasia
Familial atrial fibrillation
BNAR syndrome
Isolated trigonocephaly
Oculotrichoanal syndrome
Pancreatic hypoplasia - diabetes - congenital heart disease
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
46,XY partial gonadal dysgenesis
8p23.1 microdeletion syndrome
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Partial atrioventricular canal
Single ventricular septal defect
Acute basophilic leukemia
Beta-thalassemia - X-linked thrombocytopenia
Congenital erythropoietic porphyria
Thrombocytopenia with congenital dyserythropoietic anemia
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Athyreosis
Benign familial chorea
Brain-lung-thyroid syndrome
Papillary or follicular thyroid carcinoma
Thyroid hypoplasia
Hypoparathyroidism - deafness - renal disease
Precursor B-cell acute lymphoblastic leukemia
Autosomal dominant hyper-IgE syndrome

Synonym(s): - CDH - Diaphragmatic agenesia

Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare respiratory disease - Rare surgical thoracic disease		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: multigenic/multifactorial		External references: 4 OMIM references - 1 MeSH reference: C538080

Very frequent

- Diaphragmatic hernia / defect / agenesis