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Namespace Prefixes

PrefixIRI
n7https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
rdfshttp://www.w3.org/2000/01/rdf-schema#
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
n2:DOID_0111853
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050737 _:vb50945602 n2:DOID_9562
rdfs:label
primary ciliary dyskinesia 40
wdrs:describedby
n7:doid.owl
obo:id
DOID:0111853
obo:hasDbXref
OMIM:618300
obo:hasExactSynonym
CILD40 primary ciliary dyskinesia 40 with or without situs inversus
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in DNAH9 on chromosome 17p12.
Subject Item
_:vb50945602
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n7:doid.owl