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Namespace Prefixes

PrefixIRI
n6https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n3http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
obohttp://www.geneontology.org/formats/oboInOwl#
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
_:vb50941483
rdf:type
owl:Axiom
wdrs:describedby
n6:doid.owl
owl:annotatedProperty
n3:IAO_0000115
owl:annotatedSource
n3:DOID_0080712
owl:annotatedTarget
A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene.
obo:hasDbXref
url:https://www.genome.gov/genetics-glossary/Duplication url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656685/