Sickle Cell Disease Ontology

Last uploaded: May 6, 2021
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Preferred Name

Mutation
Synonyms
Definitions

A permanent change in the DNA sequence of a gene that alters the genetic message carried by that gene.
ID

http://purl.obolibrary.org/obo/IDOMAL_50000026
curator note

Perhaps include here an "Alpha Thalassemia Mutation" sub-class? Could use the current description for "Alpha-Globin Locus Deletion" and instead give "Alpha-Globin Locus Deletion" a description similar to that of "Beta-Globin Locus Deletion"
database cross reference

IDOMAL:50000026
definition

A permanent change in the DNA sequence of a gene that alters the genetic message carried by that gene.
definition source

http://purl.obolibrary.org/obo/IDOMAL_50000026
existence in other ontologies

Sufficient
modifies

http://purl.obolibrary.org/obo/NCIT_C26548
prefixIRI

IDOMAL:50000026
prefLabel

Mutation
previous identifier

SCDO:0001370
rdfs:label

Mutation
skos:prefLabel

Mutation
subClassOf

http://purl.obolibrary.org/obo/SCDO_0001369
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http://purl.obolibrary.org/obo/IDOMAL_50000026 HOIP SAME_URI
http://purl.obolibrary.org/obo/IDOMAL_50000026 IDOMAL SAME_URI
http://purl.obolibrary.org/obo/IDOMAL_50000026 IDODEN SAME_URI
http://purl.obolibrary.org/obo/ODGI.owl#Mutation OGDI LOOM
https://purl.dsmz.de/schema/Mutation D3O LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#G05.365.590 RH-MESH LOOM
http://doe-generated-ontology.com/OntoAD#C0026882 ONTOAD LOOM
http://purl.obolibrary.org/obo/Mutation NND_ND LOOM
http://purl.bioontology.org/ontology/MSH/D009154 HUPSON LOOM
http://www.bootstrep.eu/ontology/GRO#Mutation GRO LOOM
http://purl.obolibrary.org/obo/VariO_0139 VARIO LOOM
http://purl.obolibrary.org/obo/HIO_0000205 HIO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D009154 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0010192 OMIT LOOM
http://purl.jp/bio/4/id/200906045227981407 IOBC LOOM
http://purl.obolibrary.org/obo/TXPO_0001985 TXPO LOOM
http://purl.obolibrary.org/obo/OGI_0000088 OGI LOOM
http://purl.obolibrary.org/obo/OGI_0000088 VDOT LOOM
http://purl.obolibrary.org/obo/OGI_0000088 COVID-19 LOOM
http://purl.obolibrary.org/obo/OGI_0000088 OGSF LOOM
http://purl.obolibrary.org/obo/MESH_D009154 BERO LOOM
http://id.nlm.nih.gov/mesh/D009154 MDM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00035855 PMAPP-PMO LOOM
http://vocabs.lter-europe.net/EnvThes/USLterCV_357 ENVTHES LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0026882 OCHV LOOM
http://sweetontology.net/phenEcology/Mutation SWEET LOOM
http://localhost/plosthes.2017-1#2387 PLOSTHES LOOM
https://w3id.org/codo#VGO_Mutation CODO LOOM
http://purl.obolibrary.org/obo/MI_0118 MI LOOM
https://raw.githubusercontent.com/jbakkas/SARSMutOnto/main/SARSMutOnto.owl#mutation SARSMUTONTO LOOM
http://purl.obolibrary.org/obo/PBO_0000052 PBO LOOM
http://purl.bioontology.org/net/brunel/panda#Mutation PANDA LOOM
http://www.projecthalo.com/aura#Mutation AURA LOOM
http://purl.obolibrary.org/obo/GENO_0000492 GENO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#8378 OCHV LOOM
http://purl.obolibrary.org/obo/IDOMAL_50000026 HOIP LOOM
http://purl.obolibrary.org/obo/IDOMAL_50000026 IDOMAL LOOM
http://purl.obolibrary.org/obo/IDOMAL_50000026 IDODEN LOOM
http://purl.bioontology.org/ontology/MESH/D009154 MESH LOOM