EXT1 Gene Mutation

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;

Details

Origin ID

C178471;

UMLS CUI

C5555062;

Molecular abnormality of diseases
- Childhood Osteochondroma [NCIt concept]
- Maxillofacial Osteochondroma [NCIt concept]
- Multiple Osteochondromas [NCIt concept]
- Osteochondroma [NCIt concept]
- Solitary Osteochondroma [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
molecular_abnormality_involves_gene
- EXT1 Gene [NCIt concept]

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