# myofibrillar myopathy 8

> human disease

**Wikidata**: [Q55010195](https://www.wikidata.org/wiki/Q55010195)  
**Source**: https://4ort.xyz/entity/myofibrillar-myopathy-8


## References

1. Disease Ontology
2. UniProt
3. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/44f4197c-2004-4d10-81dc-e61190eba909--2019-11-05T13:47:31)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44f4197c-2004-4d10-81dc-e61190eba909-2019-11-05T134731.947Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000121350/MONDO_0014993)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)
8. Monarch Disease Ontology release 2018-06-29