# Smith-Magenis syndrome

> Human disease

**Wikidata**: [Q2295338](https://www.wikidata.org/wiki/Q2295338)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Smith–Magenis_syndrome)  
**Source**: https://4ort.xyz/entity/smith-magenis-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. [Source](https://ddrare.nibiohn.go.jp/)
3. Disease Ontology
4. Freebase Data Dumps. 2013
5. UniProt
6. Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions. snU3 may be a candidate gene for the Smith-Magenis syndrome
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/1e576e58-debf-49c6-a86d-c599806180ff--2018-09-27T13:00:55)
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1e576e58-debf-49c6-a86d-c599806180ff-2018-09-27T130055.105Z)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000108557/MONDO_0008434)
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)