National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
Preferred Name

Genetic Variation

Synonyms

GeneticVariation

Sequence Variant

variant classification

variant_classification

Sequence Variation

Genetic Diversity

Genetic Variation

Definitions

Genetic Variation consists of deviation(s) in the nucleotide sequence of the genetic material of an individual from that typical of the group to which the individual belongs, or deviation(s) in the nucleotide sequence of the genetic material of offspring from that of its parents.

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17248

ALT_DEFINITION

The difference(s) in the nucleotide sequence of a biologic entity relative to a reference sequence. EXAMPLE(S): A single nucleotide change from adenosine to cytosine, of the CAG trinucleotides repeats in the Huntington gene. The BRCA1 gene can contain an insertion at position 5382, BRCA1 gene.c.5382insC, or a single nucleotide polymorphism, at position 61 converting a to a G, 61C->G. OTHER NAME(S): NOTE(S):

code

C17248

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C173072

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C159501

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142799

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C159503

Contributing_Source

BRIDG

CTDC

CTRP

DEFINITION

Genetic Variation consists of deviation(s) in the nucleotide sequence of the genetic material of an individual from that typical of the group to which the individual belongs, or deviation(s) in the nucleotide sequence of the genetic material of offspring from that of its parents.

Display_Name

Genetic Variation

FULL_SYN

GeneticVariation

Sequence Variant

variant classification

variant_classification

Sequence Variation

Genetic Diversity

Genetic Variation

label

Genetic Variation

Legacy Concept Name

Genetic_Variation

Preferred_Name

Genetic Variation

prefixIRI

Thesaurus:C17248

Semantic_Type

Nucleotide Sequence

UMLS_CUI

C0042333

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19896

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Delete Mapping To Ontology Source
http://www.ebi.ac.uk/efo/EFO_0004828 EFO LOOM
http://www.ebi.ac.uk/efo/EFO_0004828 ENM LOOM
http://www.ebi.ac.uk/efo/EFO_0004828 CCONT LOOM
http://www.ebi.ac.uk/efo/EFO_0004828 HSPO LOOM
http://www.ebi.ac.uk/efo/EFO_0004828 GSSO LOOM
http://www.projecthalo.com/aura#Genetic-Variation AURA LOOM
http://purl.obolibrary.org/obo/MCBCC_0000287#GeneticVariation MCBCC LOOM
http://purl.bioontology.org/ontology/SNMI/F-E1540 SNMI LOOM
http://purl.obolibrary.org/obo/OMIT_0015478 OMIT LOOM
http://id.nlm.nih.gov/mesh/D014644 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D014644 RH-MESH LOOM
http://purl.obolibrary.org/obo/OGI_0000012 OGI LOOM
http://purl.obolibrary.org/obo/OGI_0000012 VDOT LOOM
http://purl.obolibrary.org/obo/OGI_0000012 COVID-19 LOOM
http://purl.obolibrary.org/obo/OGI_0000012 OGSF LOOM
http://purl.obolibrary.org/obo/HIO_0000034 HIO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0042333 OCHV LOOM
http://www.semanticweb.org/admin/ontologies/2022/7/MIO:00714 MIO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#G05.365 RH-MESH LOOM
http://edamontology.org/topic_0199 BERO LOOM
http://edamontology.org/topic_0199 EDAM LOOM
http://edamontology.org/topic_0199 ITO LOOM
http://edamontology.org/topic_0199 BMT LOOM
http://purl.jp/bio/4/id/200906095618847249 IOBC LOOM
http://purl.obolibrary.org/obo/MESH_D014644 BERO LOOM
http://purl.bioontology.org/ontology/MESH/D014644 MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/64195000 SNOMEDCT LOOM
http://purl.org/zonmw/covid19/10266 ZONMW-CONTENT LOOM
http://purl.obolibrary.org/obo/SCDO_0001369 SCDO LOOM