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Metadata
ID DOID:0111462
Name cardiofaciocutaneous syndrome 3
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
Xrefs

OMIM:615279

Synonyms

CFC3 [EXACT]

Parent Relationships

is_a cardiofaciocutaneous syndrome

is_a autosomal dominant disease

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