National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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Preferred Name

Gene Abnormality
Synonyms

Gene Abnormality
Definitions

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.
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C36327
code

C36327
DEFINITION

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.
FULL_SYN

Gene Abnormality
label

Gene Abnormality
Legacy Concept Name

Gene_Abnormality
Preferred_Name

Gene Abnormality
prefixIRI

Thesaurus:C36327
Semantic_Type

Cell or Molecular Dysfunction
UMLS_CUI

C1517478
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C36391
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