# pyridoxal phosphate-responsive seizures

> human disease

**Wikidata**: [Q55783725](https://www.wikidata.org/wiki/Q55783725)  
**Source**: https://4ort.xyz/entity/pyridoxal-phosphate-responsive-seizures


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3ff7b38-dd26-458a-afbb-4870785c42ec-2020-12-15T170000.000Z)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000108439/MONDO_0012407)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)