# early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome

> human disease

**Wikidata**: [Q56002943](https://www.wikidata.org/wiki/Q56002943)  
**Source**: https://4ort.xyz/entity/early-onset-myopathy-areflexia-respiratory-distress-dysphagia-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/1d00193c-b0fd-40b4-b5d5-51eecece9669--2020-01-27T17:00:00)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d00193c-b0fd-40b4-b5d5-51eecece9669-2020-01-27T170000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000145794/MONDO_0013731)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)