# cardiofaciocutaneous syndrome

> Human disease

**Wikidata**: [Q1097490](https://www.wikidata.org/wiki/Q1097490)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome)  
**Source**: https://4ort.xyz/entity/cardiofaciocutaneous-syndrome


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. Molecular and functional analysis of a novel MEK2 mutation in cardio‐facio‐cutaneous syndrome: Transmission through four generations
5. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome
6. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/fc3c41d8-8497-489b-a350-c9e30016bc6a--2018-06-07T14:31:03)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)
9. Monarch Disease Ontology release 2018-06-29