Preferred Label : SEM1 Gene Mutation;
NCIt synonyms : Shfdg1 Gene Mutation; SHFD1 Gene Mutation; SEM1 26S Proteasome Complex Subunit Gene Mutation; ECD Gene Mutation; SHSF1 Gene Mutation; Deleted In Split-Hand/Split-Foot 1 Gene Mutation; DSS1 Gene Mutation; C7orf76 Gene Mutation; SHFM1 Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the SEM1 gene.;
NCI Metathesaurus CUI : CL1382887;
Origin ID : C170429;
UMLS CUI : C5418557;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene