Preferred Label : ELANE Gene Mutation;
NCIt synonyms : ELA2 Gene Mutation; GE Gene Mutation; HNE Gene Mutation; HLE Gene Mutation; Elastase, Neutrophil Expressed Gene Mutation; PMN-E Gene Mutation; Elastase 2, Neutrophil Gene Mutation; NE Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the ELANE gene.;
NCI Metathesaurus CUI : CL1407350;
Origin ID : C173583;
UMLS CUI : C5420278;
Semantic type(s)
molecular_abnormality_involves_gene