Summary Literature (0)

DOID:0060233 - cardiofaciocutaneous syndrome

Disease Ontology 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.

Synonyms: CFC syndrome, cardio-facial-cutaneous syndrome,

Echinobase Genes :


OMIM:

MIM:115150 - cardiofaciocutaneous syndrome 1; cfc1

MIM:615279 - cardiofaciocutaneous syndrome 3; cfc3

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee