Disease association ontology term - MONDO:0009053 - ALDH18A1-related de Barsy syndrome
Term summary
- ID
- MONDO:0009053
- Name
- ALDH18A1-related de Barsy syndrome
- Ontology or CV name
- Disease association
- Definition
- ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.
