Term Name: cardiofaciocutaneous syndrome 4
Synonyms: CFC4
Definition: A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAPK2K2 gene on chromosome 19p13.3.
Ontology: Human Disease [DOID:0111463]   ( DOID:0111463 )

Relationships
is a type of: autosomal dominant disease cardiofaciocutaneous syndrome