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Namespace Prefixes

PrefixIRI
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n3http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
dchttp://purl.org/dc/elements/1.1/
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
_:vb50943316
rdf:type
owl:Axiom
wdrs:describedby
n6:doid.owl
dc:type
n3:ECO_0007645
owl:annotatedProperty
n3:IAO_0000115
owl:annotatedSource
n3:DOID_0110624
owl:annotatedTarget
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13.
obo:hasDbXref
url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 url:https://www.ncbi.nlm.nih.gov/pubmed/25192045