# nemaline myopathy 2

> nemaline myopathy that has material basis in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23

**Wikidata**: [Q32144835](https://www.wikidata.org/wiki/Q32144835)  
**Source**: https://4ort.xyz/entity/nemaline-myopathy-2


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/796dd762-f35c-425a-be3f-05424324ade0--2019-10-21T16:00:00)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_796dd762-f35c-425a-be3f-05424324ade0-2019-10-21T160000.000Z)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)