Preferred Label : EXT1 Gene Mutation;
NCIt synonyms : Exostosin Glycosyltransferase 1 Gene Mutation; Multiple Exostosis 1 Gene Mutation; EXT Gene Mutation; TRPS2 Gene Mutation; TTV Gene Mutation; Exostosin 1 Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the EXT1 gene.;
NCI Metathesaurus CUI : CL1648110;
Origin ID : C178471;
UMLS CUI : C5555062;
- Molecular abnormality of diseases
- Semantic type(s)
- molecular_abnormality_involves_gene