# nemaline myopathy 8

> human disease

**Wikidata**: [Q32144863](https://www.wikidata.org/wiki/Q32144863)  
**Source**: https://4ort.xyz/entity/nemaline-myopathy-8


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/dd1008a8-dd54-43d0-962c-82453975dc3a--2019-11-05T13:46:03)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd1008a8-dd54-43d0-962c-82453975dc3a-2019-11-05T134603.480Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000157119/MONDO_0014138)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)