About: Mutation Abnormality

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Mutation Abnormality Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Mutation Abnormality
rdfs:subClassOf	Molecular Genetic Variation
Semantic_Type	Cell or Molecular Dysfunction
Preferred_Name	Mutation Abnormality
UMLS_CUI	C1705285
ALT_DEFINITION	Any change in the DNA of a cell. Mutations may be caused by mistakes during cell division, or they may be caused by exposure to DNA-damaging agents in the environment. Mutations can be harmful, beneficial, or have no effect. If they occur in cells that make eggs or sperm, they can be inherited; if mutations occur in other types of cells, they are not inherited. Certain mutations may lead to cancer or other diseases.NCI-GLOSS
Legacy_Concept_Name	Mutation_Abnormality
FULL_SYN	Genetic ChangeSYNCI Mutation AbnormalitySYNCITCGA Genetic AlterationSYNCI MutatedADNCI MutationSYNCI mutationPTNCI-GLOSSCDR0000046063 MutationSYNCITCGA Mutation AbnormalityPTNCI
DEFINITION	Any transmissible change in the genetic material of an organism, which can result from radiation, viral infection, transposition, treatment with mutagenic chemicals and errors during DNA replication or meiosis. The effects of mutation range from single base changes to loss or gain of complete chromosomes. As many of the simpler alterations to DNA may be repaired, such changes are only heritable once the change is fixed in the DNA by the process of replication. Mutations may be associated with genetic diversity or with pathologies including cancer.NCI
code	C45576
is rdfs:subClassOf of	Somatic Mutation Inversion Mutation Abnormality UV Mutation Abnormality Restriction Site Polymorphism Targeted Mutation Novel Mutation de novo Mutation Frameshift Mutation Germline Mutation Gene Mutation Insertion Mutation Deletion Mutation Bistrand Abasic Site Embryonic Lethal Mutation Induced Mutation Germline Mutation Abnormality Multiple Nucleotide Abnormalities Tandem Repeat Variation Point Mutation Disease-causing Mutation Founder Mutation Deleterious Mutation Null Allele Indel Mutation

Faceted Search & Find service v1.16.118 as of Jun 21 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 18 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software