EXT2 Gene Mutation

Preferred Label : EXT2 Gene Mutation;

NCIt synonyms : Exostosin Glycosyltransferase 2 Gene Mutation; Multiple Exostosis 2 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the EXT2 gene.;

NCI Metathesaurus CUI : CL1648111;

Details

Origin ID

C178472;

UMLS CUI

C5555063;

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
- EXT2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

All resources
or only the major
or use the search engine

recommendations
documents concerning education
documents for patients