Disease association ontology term - MONDO:0015005 - epilepsy, early-onset, vitamin B6-dependent
Term summary
- ID
- MONDO:0015005
- Name
- epilepsy, early-onset, vitamin B6-dependent
- Ontology or CV name
- Disease association
- Definition
- A pyridoxine-dependent epilepsy that has material basis in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23.
