Bone Dysplasia Ontology

Last uploaded: February 9, 2012
Preferred Name

Point Mutation
Synonyms
ID

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

DEFINITION

A small-scale mutation in which a single nucleotide is exchanged for another. Mutagenic chemicals and mistakes in DNA replication may result in point mutations.

label

Point Mutation

prefixIRI

nci:Point_Mutation

prefLabel

Point Mutation

UMLS CUI

C0162735

subClassOf

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

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Mapping To Ontology Source
http://sbmi.uth.tmc.edu/ontology/ochv#17964 OCHV LOOM
http://purl.jp/bio/4/id/200906046637774723 IOBC LOOM
http://purl.obolibrary.org/obo/OMIT_0017724 OMIT LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/471281007 SNOMEDCT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62200 NCIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0162735 OCHV LOOM
http://purl.obolibrary.org/obo/HIO_0000446 HIO LOOM
http://www.projecthalo.com/aura#Point-Mutation AURA LOOM
http://purl.obolibrary.org/obo/NCIT_C62200 BERO LOOM
http://purl.obolibrary.org/obo/NCIT_C62200 SCDO LOOM
http://purl.obolibrary.org/obo/MESH_D017354 BERO LOOM
http://doe-generated-ontology.com/OntoAD#C0162735 ONTOAD LOOM
http://purl.obolibrary.org/obo/OGI_0000100 OGI LOOM
http://purl.obolibrary.org/obo/OGI_0000100 OGSF LOOM
http://purl.obolibrary.org/obo/PBO_0000511 PBO LOOM
http://localhost/plosthes.2017-1#1246 PLOSTHES LOOM
http://purl.obolibrary.org/obo/SO_1000008 SO LOOM
http://purl.obolibrary.org/obo/SO_1000008 NIFSTD LOOM
http://purl.obolibrary.org/obo/SO_1000008 KTAO LOOM
http://purl.obolibrary.org/obo/SO_1000008 GENO LOOM
http://purl.obolibrary.org/obo/SO_1000008 ERO LOOM
https://w3id.org/codo#VGO_PointMutation CODO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D017354 RH-MESH LOOM
http://purl.bioontology.org/ontology/CSP/1259-9080 CRISP LOOM
http://purl.obolibrary.org/obo/MCBCC_0000317#PointMutation MCBCC LOOM
http://id.nlm.nih.gov/mesh/D017354 MDM LOOM
https://pat.nichd.nih.gov/patgeneticvariance/GV.03.02.01 PATGV LOOM
http://purl.bioontology.org/ontology/MESH/D017354 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#G05.365.590.675 RH-MESH LOOM