Disease association ontology term - MONDO:0015000 - developmental and epileptic encephalopathy, 48
Term summary
- ID
- MONDO:0015000
- Name
- developmental and epileptic encephalopathy, 48
- Ontology or CV name
- Disease association
- Definition
- Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene.