cardiofaciocutaneous syndrome 1

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Summary

Literature (0)

DOID:0111460 - cardiofaciocutaneous syndrome 1

Disease Ontology Definition:A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34.

Synonyms: CFC1

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: braf

MIM:

MIM:115150 - CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1

MIM:115150 - CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), cardiofaciocutaneous syndrome (is_a)