Term Name: cardiofaciocutaneous syndrome 1
Synonyms: CFC1
Definition: A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34.
Ontology: Human Disease [DOID:0111460]   ( DOID:0111460 )

Relationships
is a type of: autosomal dominant disease cardiofaciocutaneous syndrome