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Namespace Prefixes

PrefixIRI
n7https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n3http://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
n3:DOID_0110597
rdf:type
owl:Class
rdfs:subClassOf
n3:DOID_9562 _:vb50943285
rdfs:label
primary ciliary dyskinesia 22
wdrs:describedby
n7:doid.owl
obo:id
DOID:0110597
obo:hasDbXref
ICD10CM:Q34.8 OMIM:615444
obo:hasExactSynonym
CILD22 primary ciliary dyskinesia 22 with or without situs inversus
obo:hasOBONamespace
disease_ontology
n3:IAO_0000115
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21.
Subject Item
_:vb50943285
rdf:type
owl:Restriction
owl:onProperty
n3:RO_0002452
owl:someValuesFrom
n3:SYMP_0000686
wdrs:describedby
n7:doid.owl