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Namespace Prefixes

PrefixIRI
n5https://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_0110626
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_9562 _:vb50943318
rdfs:label
primary ciliary dyskinesia 2
wdrs:describedby
n5:doid.owl
obo:id
DOID:0110626
obo:hasDbXref
OMIM:606763 ICD10CM:Q34.8
obo:hasExactSynonym
CILD2 primary ciliary dyskinesia 2 with or without situs inversus
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13.
Subject Item
_:vb50943318
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0002452
owl:someValuesFrom
n2:SYMP_0000686
wdrs:describedby
n5:doid.owl