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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


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): RASopathy (is_a), monogenic disease (is_a), syndrome (is_a)