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Cardiofaciocutaneous Syndrome 1

Disease ID: disease_node_19066

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DbxrefMIM:115150
SubclassofDOID_0050736, DOID_0060233
Data SourceDOID
SynonymsCFC1
Doid Labelcardiofaciocutaneous syndrome 1
Doid DescriptionA cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_19066
Doid IdDOID_0111460
LabelCardiofaciocutaneous Syndrome 1