Term Name: | cardiofaciocutaneous syndrome 3 |
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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 ) |