Preferred Label : HBB Gene Mutation;
NCIt synonyms : Beta-Globin Gene Mutation; Hemoglobin Beta Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the HBB gene.;
NCI Metathesaurus CUI : CL935924;
Origin ID : C156900;
UMLS CUI : C4745155;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene