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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_0111857
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050737 n2:DOID_9562 _:vb50945610
rdfs:label
primary ciliary dyskinesia 45
wdrs:describedby
n7:doid.owl
obo:id
DOID:0111857
obo:hasDbXref
OMIM:618801
obo:hasExactSynonym
primary ciliary dyskinesia 45 without situs inversus CILD45
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in TTC12 on chromosome 11q23.2.
Subject Item
_:vb50945610
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n7:doid.owl