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Metadata
ID DOID:0111460
Name cardiofaciocutaneous syndrome 1
Definition A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34.
https://www.ncbi.nlm.nih.gov/pubmed/16474404
Xrefs

MIM:115150

Synonyms

CFC1 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a cardiofaciocutaneous syndrome

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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