Disease association ontology term - MONDO:0018921 - Meckel syndrome
Term summary
- ID
- MONDO:0018921
- Name
- Meckel syndrome
- Ontology or CV name
- Disease association
- Definition
- A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.
