| Metadata | |
|---|---|
| ID | DOID:0060233 |
| Name | cardiofaciocutaneous syndrome |
| Definition | A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. http://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome, http://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
cardio-facial-cutaneous syndrome [EXACT] CFC syndrome [EXACT] |
| Parent Relationships |
is_a RASopathy is_a monogenic disease |