Preferred Label : NLRP1 Gene Mutation;
NCIt synonyms : NLR Family Pyrin Domain Containing 1 Gene Mutation; NALP1 Gene Mutation; CIDED Gene Mutation; PP1044 Gene Mutation; CARD7 Gene Mutation; DEFCAP Gene Mutation; NAC Gene Mutation; CLR17.1 Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the NLRP1 gene.;
NCI Metathesaurus CUI : CL554494;
Origin ID : C153266;
UMLS CUI : C4723843;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene