|OBO ID: DOID:0060233|
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|Term Name:||cardiofaciocutaneous syndrome||Search Ontology:|
|Definition:||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. (3)|
|Ontology:||Human Disease (DOID:0060233)|