cardiofaciocutaneous syndrome 3

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Summary

Literature (0)

DOID:0111462 - cardiofaciocutaneous syndrome 3

Disease Ontology Definition:A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31.

Synonyms: CFC3

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

: map2k1

MIM:

MIM:615279 - CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3

MIM:615279 - CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3

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)