Preferred Label : KRT5 Gene Mutation;
NCIt synonyms : KRT5A Gene Mutation; EBS2 Gene Mutation; Keratin 5 Gene Mutation; K5 Gene Mutation; CK5 Gene Mutation; Keratin 5, Type II Gene Mutation; CK-5 Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the KRT5 gene.;
NCI Metathesaurus CUI : CL552380;
Origin ID : C150652;
UMLS CUI : C4727712;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene