Hearing Impairment Ontology

Last uploaded: October 31, 2019
Preferred Name

Genetic Variation
Synonyms
Definitions

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://purl.obolibrary.org/obo/HIO_0000034

description

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.

created_by

Jade Hotchkiss

creation_date

2019-05-31T07:19:42.003651Z

curator note

SCDO to request update to description in NCIT. Update at a later stage if necessary.

database cross reference

SCDO:0001369

definition source

http://scdontology.h3abionet.org/ontology/SCDO_0001369

existence in other ontologies

Sufficient

label

Genetic Variation

prefixIRI

HIO:0000034

prefLabel

Genetic Variation

subClassOf

http://purl.obolibrary.org/obo/HIO_0000033

http://purl.obolibrary.org/obo/HIO_0000083

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Mapping To Ontology Source
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 EFO LOOM
http://www.ebi.ac.uk/efo/EFO_0004828 GSSO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17248 NCIT LOOM
http://www.projecthalo.com/aura#Genetic-Variation AURA LOOM
http://purl.obolibrary.org/obo/PBO_0000027 PBO 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://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