Medical Subject Headings

Last uploaded: January 31, 2024
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Preferred Name

Point Mutation
Synonyms

Mutations, Point
Definitions

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
ID

http://purl.bioontology.org/ontology/MESH/D017354
altLabel

Mutations, Point

Mutation, Point

Point Mutations
AN

see MUTATION for correct use of /drug eff & /rad eff
AQL

DE ES GE IM PH RE
cui

C0162735
DC

1
definition

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
DX

19930101
FX

D020125
HN

93
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000941

http://purl.bioontology.org/ontology/MESH/Q000502

http://purl.bioontology.org/ontology/MESH/Q000187

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000528
Inverse of RO

http://purl.bioontology.org/ontology/MESH/D020125
Machine permutation

93
MDA

19920522
MMR

20080708
MN

G05.365.590.675
notation

D017354
prefLabel

Point Mutation
TERMUI

T051889

T051888
TH

NLM (1993)
tui

T049
subClassOf

http://purl.bioontology.org/ontology/MESH/D009154
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http://purl.bioontology.org/ontology/SNOMEDCT/471281007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D017354 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/471281007 SCTSPA CUI
http://purl.bioontology.org/ontology/CSP/1259-9080 CRISP CUI
http://purl.obolibrary.org/obo/SO_1000008 SO LOOM
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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Point_Mutation BDO 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://localhost/plosthes.2017-1#1246 PLOSTHES 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
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://phenomebrowser.net/ontologies/mesh/mesh.owl#G05.365.590.675 RH-MESH LOOM