Bone Dysplasia Ontology

Last uploaded: February 9, 2012

Preferred Name	Gene Mutation
Synonyms
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Gene_Mutation
DEFINITION	The result of any gain, loss or alteration of the sequences comprising a gene, including all sequences transcribed into RNA.
label	Gene Mutation
prefixIRI	nci:Gene_Mutation
prefLabel	Gene Mutation
UMLS CUI	C0596611
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Mutation_Abnormality

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/NCIT_C18093	BERO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10064571	MEDDRA	LOOM
http://vocabs.lter-europe.net/EnvThes/21618	ENVTHES	LOOM
http://www.bootstrep.eu/ontology/GRO#GeneMutation	GRO	LOOM
http://vocabs.lter-europe.net/EnvThes/msa0484	ENVTHES	LOOM
http://purl.jp/bio/4/id/200906030190422804	IOBC	LOOM
http://doe-generated-ontology.com/OntoAD#C0596611	ONTOAD	LOOM
http://purl.bioontology.org/ontology/CSP/1259-7796	CRISP	LOOM
http://purl.obolibrary.org/obo/MCBCC_0000295#GeneMutation	MCBCC	LOOM
http://purl.obolibrary.org/obo/PBO_0000210	PBO	LOOM
http://purl.bioontology.org/ontology/LNC/MTHU000100	LOINC	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#41586	OCHV	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18093	NCIT	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0596611	OCHV	LOOM