# Lafora disease

> type of rare, inherited, severe, progressive myoclonic epilepsy

**Wikidata**: [Q163905](https://www.wikidata.org/wiki/Q163905)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Lafora_disease)  
**Source**: https://4ort.xyz/entity/lafora-disease


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. UniProt
5. Mutations in NHLRC1 cause progressive myoclonus epilepsy
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/c4dbe715-b897-482d-afeb-b05c0653a79a--2020-03-03T17:00:00)
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c4dbe715-b897-482d-afeb-b05c0653a79a-2020-03-03T170000.000Z)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000187566/MONDO_0009697)
9. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
10. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/f970ced6-0164-41ed-9e1f-1fb9f892bca6--2020-05-23T19:00:00)
11. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f970ced6-0164-41ed-9e1f-1fb9f892bca6-2020-05-23T190000.000Z)
12. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000112425/MONDO_0009697)
13. BabelNet
14. [Identifiers.org](https://registry.identifiers.org/registry/doid)
15. UMLS 2023
16. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)