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Metadata
ID DOID:0111463
Name cardiofaciocutaneous syndrome 4
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
Xrefs

OMIM:615280

Synonyms

CFC4 [EXACT]

Parent Relationships

is_a cardiofaciocutaneous syndrome

is_a autosomal dominant disease

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