Preferred Label : LYST Gene Mutation;
NCIt synonyms : CHS1 Gene Mutation; Chediak-Higashi Syndrome 1 Gene Mutation; Lysosomal Trafficking Regulator Gene Mutation; CHS Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the LYST gene.;
NCI Metathesaurus CUI : CL950635;
Origin ID : C158655;
UMLS CUI : C5203857;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene