cardiofaciocutaneous syndrome 3

Term ID

DOID:0111462

Synonyms

• CFC3

Definition

A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31. https://www.ncbi.nlm.nih.gov/pubmed/16439621

References

• OMIM:615279

Ontology

Human Disease   ( DOID:0111462 )