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Namespace Prefixes

PrefixIRI
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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
_:vb50943296
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wdrs:describedby
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dc:type
n3:ECO_0007645
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n3:IAO_0000115
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n3:DOID_0110604
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A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22.
obo:hasDbXref
url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 url:https://www.ncbi.nlm.nih.gov/pubmed/23040496