cardiofaciocutaneous syndrome 4

Term ID

DOID:0111463

Synonyms

• CFC4

Definition

A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAPK2K2 gene on chromosome 19p13.3. https://www.ncbi.nlm.nih.gov/pubmed/20358587

References

• OMIM:615280

Ontology

Human Disease   ( DOID:0111463 )