Summary Literature (1)

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,

Xenbase Genes : map2k1, braf, kras

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0015280 - cardiofaciocutaneous syndrome

OMIM:

OMIM:115150 - CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1

OMIM:615279 - CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3

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

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