Term Name: cardiofaciocutaneous syndrome 3
Synonyms: CFC3
Definition: A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31.
Ontology: Human Disease [DOID:0111462]   ( DOID:0111462 )

Relationships
is a type of: autosomal dominant disease cardiofaciocutaneous syndrome