Preferred Label : Activating FGFR Gene Mutation;
NCIt synonyms : Activating FGFR Mutation; Activating Fibroblast Growth Factor Receptor Family Gene Mutation; Activating FGF Receptor Gene Family Mutation; Activating FGF Receptor Gene Mutation; Activating FGFR Family Gene Mutation; Activating Fibroblast Growth Factor Receptor Gene Mutation; Gain-of-Function FGFR Gene Mutation; Activating FGFR Family Mutation;
NCIt definition : A change in the nucleotide sequence of an FGFR family gene that that results in constitutive
activation the encoded fibroblast growth factor receptor protein and its downstream
signaling pathways.;
NCI Metathesaurus CUI : CL554361;
Origin ID : C153103;
UMLS CUI : C4727023;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene