Terminology Service for NFDI4Health
NF2 Gene Mutation
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http://purl.obolibrary.org/obo/NCIT_C45669
A molecular genetic abnormality that refers to the mutation of the NF2 gene located at 22q12.2. [ ]
Term info
Label
NF2 Gene Mutation
Synonyms
- ACN Gene Mutation
- BANF Gene Mutation
- Merlin Gene Mutation
- NF2 Gene Mutation
- NF2 Mutation
- Neurofibromin 2 Gene Mutation
- SCH Gene Mutation
Subsets
NCIT_C116977, NCIT_C142800, NCIT_C142799
Contributing Source
CTRP
Display Name
NF2 Gene Mutation
Legacy Concept Name
NF2_Gene_Mutation
Preferred Name
NF2 Gene Mutation
Semantic Type
Cell or Molecular Dysfunction
UMLS CUI
C1709126
code
C45669