Preferred Label : ADA2 Gene Mutation;
NCIt synonyms : PAN Gene Mutation; CECR1 Gene Mutation; ADGF Gene Mutation; Adenosine Deaminase 2 Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the ADA2 gene.;
NCI Metathesaurus CUI : CL1407463;
Origin ID : C173462;
UMLS CUI : C5420217;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene