You are using an outdated browser. Please upgrade your browser to improve your experience.

cardiofaciocutaneous syndrome

Disease Summary
Associated Targets (9)
Tclin

4

Tchem

3

Tbio

2


Explore Associated Targets
Mondo Description Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.
Disease Ontology Description A syndrome 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.
Mondo Term and Equivalent IDs
MONDO:0015280:  cardiofaciocutaneous syndrome
GARD:0009146: 
MESH:C535579: 
NCIT:C84617: 
OMIMPS:115150: 
Orphanet:1340: 
SCTID:403770008: 
UMLS:C1275081: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)