Terminology Service for NFDI4Health
Gene Abnormality
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http://purl.obolibrary.org/obo/NCIT_C36327
A variation in or modification of the nucleic acid sequence of a gene that can alter its expression and may result in either a congenital disorder or the clinical presentation of a disease. [ ]
Term info
Label
Gene Abnormality
Synonyms
- Gene Abnormality
Legacy Concept Name
Gene_Abnormality
Preferred Name
Gene Abnormality
Semantic Type
Cell or Molecular Dysfunction
UMLS CUI
C1517478
code
C36327