# Myhre syndrome

> medical condition

**Wikidata**: [Q17042115](https://www.wikidata.org/wiki/Q17042115)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Myhre_syndrome)  
**Source**: https://4ort.xyz/entity/myhre-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5a082cc-c214-4bfa-8cb8-caead239d129-2021-12-30T170000.000Z)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000141646/MONDO_0007688)