Term Name: | cardiofaciocutaneous syndrome 4 |
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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 ) |