Sickle Cell Disease Ontology

Last uploaded: June 27, 2019
Preferred Name

Mutation

Definitions

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

ID

http://scdontology.h3abionet.org/ontology/SCDO_0001370

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

prefixIRI

ontology:SCDO_0001370

prefLabel

Mutation

rdfs:label

Mutation

subClassOf

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

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http://phenomebrowser.net/ontologies/mesh/mesh.owl#G05.365.590 RH-MESH LOOM
http://d-nb.info/gnd/4170883-0 FAST-TOPICAL LOOM
http://purl.bioontology.org/ontology/MSH/D009154 HUPSON LOOM
http://purl.obolibrary.org/obo/MI_0118 MI LOOM
http://purl.obolibrary.org/obo/MI_0118 MI LOOM
http://purl.obolibrary.org/obo/MI_0118 MI LOOM
http://purl.obolibrary.org/obo/MI_0118 MI LOOM
http://purl.obolibrary.org/obo/MI_0118 MI LOOM
http://purl.obolibrary.org/obo/MI_0118 MI LOOM
http://purl.obolibrary.org/obo/MI_0118 MI LOOM
http://purl.obolibrary.org/obo/ODGI.owl#Mutation OGDI LOOM
http://purl.obolibrary.org/obo/OGI_0000088 VDOT LOOM
http://purl.obolibrary.org/obo/OGI_0000088 VDOT LOOM
http://purl.obolibrary.org/obo/OGI_0000088 OGSF LOOM
http://purl.obolibrary.org/obo/OGI_0000088 VDOT LOOM
http://purl.obolibrary.org/obo/OGI_0000088 VDOT LOOM
http://purl.obolibrary.org/obo/OGI_0000088 VDOT LOOM
http://purl.obolibrary.org/obo/OGI_0000088 VDOT LOOM
http://purl.obolibrary.org/obo/OGI_0000088 OGI LOOM
http://www.projecthalo.com/aura#Mutation AURA LOOM
http://localhost/plosthes.2017-1#2387 PLOSTHES LOOM
http://purl.obolibrary.org/obo/GENO_0000492 GENO LOOM
http://purl.obolibrary.org/obo/GENO_0000492 GENO LOOM
http://purl.obolibrary.org/obo/GENO_0000492 GENO LOOM
http://purl.bioontology.org/net/brunel/panda#Mutation PANDA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16885 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16885 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16885 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16885 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16885 NCIT LOOM
http://purl.obolibrary.org/obo/IDOMAL_50000026 IDOMAL LOOM
http://purl.obolibrary.org/obo/IDOMAL_50000026 IDODEN LOOM
http://purl.bioontology.org/ontology/LNC/LP32514-9 LOINC LOOM
http://id.loc.gov/authorities/subjects/sh00006798 FAST-TOPICAL LOOM
http://bioportal.bioontology.org/ontologies/txpo/TXPO_0001985 TXPO LOOM
http://bioportal.bioontology.org/ontologies/txpo/TXPO_0001985 TXPO LOOM
http://bioportal.bioontology.org/ontologies/txpo/TXPO_0001985 TXPO LOOM
http://bioportal.bioontology.org/ontologies/txpo/TXPO_0001985 TXPO LOOM
http://bioportal.bioontology.org/ontologies/txpo/TXPO_0001985 TXPO LOOM
http://bioportal.bioontology.org/ontologies/txpo/TXPO_0001985 TXPO LOOM
http://bioportal.bioontology.org/ontologies/txpo/TXPO_0001985 TXPO LOOM
http://bioportal.bioontology.org/ontologies/txpo/TXPO_0001985 TXPO LOOM
http://bioportal.bioontology.org/ontologies/txpo/TXPO_0001985 TXPO LOOM
http://scai.fraunhofer.de/AlzheimerOntology#mutation ADO LOOM
http://www.bootstrep.eu/ontology/GRO#Mutation GRO LOOM
http://purl.obolibrary.org/obo/VariO_0139 VARIO LOOM
http://sweetontology.net/phenEcology/Mutation SWEET LOOM
http://purl.bioontology.org/ontology/MESH/D009154 MESH LOOM
http://bioportal.bioontology.org/ontologies/txp/TXP_0001985 TXPO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D009154 RH-MESH LOOM
http://purl.jp/bio/4/id/200906045227981407 IOBC LOOM
http://purl.jp/bio/4/id/200906045227981407 IOBC LOOM
http://purl.jp/bio/4/id/200906045227981407 IOBC LOOM
http://doe-generated-ontology.com/OntoAD#C0026882 ONTOAD LOOM