Preferred Label : SIX1 Gene Mutation;
NCIt synonyms : Sine Oculis Homeobox Homolog 1 Gene Mutation; TIP39 Gene Mutation; SIX Homeobox 1 Gene Mutation; BOS3 Gene Mutation; DFNA23 Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the SIX1 gene.;
NCI Metathesaurus CUI : CL950759;
Origin ID : C158667;
UMLS CUI : C5203869;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene