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An Entity of Type : owl:Axiom, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

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type	Axiom
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
Type	http://purl.obolibrary.org/obo/ECO_0007645
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	primary ciliary dyskinesia 40
annotatedTarget	A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in DNAH9 on chromosome 17p12.
database_cross_reference	url:https://www.ncbi.nlm.nih.gov/pubmed/30471717 url:https://www.ncbi.nlm.nih.gov/pubmed/30471718
is topic of	Human Disease Ontology

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