# pyridoxine-dependent epilepsy

> extremely rare disorder

**Wikidata**: [Q7263591](https://www.wikidata.org/wiki/Q7263591)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Pyridoxine-dependent_epilepsy)  
**Source**: https://4ort.xyz/entity/pyridoxine-dependent-epilepsy


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Mutations in antiquitin in individuals with pyridoxine-dependent seizures
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/7a982307-d8bd-43d1-b356-ef7ee6f32045--2019-07-26T17:09:04)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/7a982307-d8bd-43d1-b356-ef7ee6f32045--2019-07-26T16:00:00)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a982307-d8bd-43d1-b356-ef7ee6f32045-2019-07-26T160000.000Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000164904/MONDO_0009945)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000147471/MONDO_0009945)
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)