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Namespace Prefixes

Prefix	IRI
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n3	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
dc	http://purl.org/dc/elements/1.1/
obo	http://www.geneontology.org/formats/oboInOwl#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

_:vb50943319

rdf:type

owl:Axiom

wdrs:describedby

n7:doid.owl

dc:type

n3:ECO_0007645

owl:annotatedProperty

n3:IAO_0000115

owl:annotatedSource

n3:DOID_0110626

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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.

obo:hasDbXref

url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 url:https://www.ncbi.nlm.nih.gov/pubmed/22387996