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Namespace Prefixes

PrefixIRI
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dchttp://purl.org/dc/elements/1.1/
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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
_:vb50943305
rdf:type
owl:Axiom
wdrs:describedby
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dc:type
n6:ECO_0007645
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n6:IAO_0000115
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n6:DOID_0110613
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A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3.
obo:hasDbXref
url:https://www.ncbi.nlm.nih.gov/pubmed/21496787 url:https://www.ncbi.nlm.nih.gov/pubmed/26998415