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http://purl.uniprot.org/diseases/5451http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/5451http://www.w3.org/2000/01/rdf-schema#comment"A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD40 inheritance is autosomal recessive."xsd:string
http://purl.uniprot.org/diseases/5451http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/1012
http://purl.uniprot.org/diseases/5451http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/mim/618300
http://purl.uniprot.org/diseases/5451http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://id.nlm.nih.gov/mesh/D007619
http://purl.uniprot.org/diseases/5451http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/medgen/CN258165
http://purl.uniprot.org/diseases/5451http://www.w3.org/2004/02/skos/core#prefLabel"Ciliary dyskinesia, primary, 40"xsd:string
http://purl.uniprot.org/diseases/5451http://purl.uniprot.org/core/mnemonic"CILD40"xsd:string
http://purl.uniprot.org/diseases/5451http://www.w3.org/2004/02/skos/core#altLabel"Ciliary dyskinesia, primary, 40, with or without situs inversus"xsd:string
http://purl.uniprot.org/uniprot/Q9NYC9#SIP0897223D91325438http://purl.uniprot.org/core/diseasehttp://purl.uniprot.org/diseases/5451
http://purl.uniprot.org/annotation/VAR_081802http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/5451
http://purl.uniprot.org/annotation/VAR_081803http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/5451
http://purl.uniprot.org/annotation/VAR_081804http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/5451
http://purl.uniprot.org/annotation/VAR_081805http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/5451
http://purl.uniprot.org/annotation/VAR_081806http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/5451
http://purl.uniprot.org/annotation/VAR_081807http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/5451
http://purl.uniprot.org/annotation/VAR_081808http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/5451
http://purl.uniprot.org/annotation/VAR_081809http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/5451
http://purl.uniprot.org/uniprot/#_16446C37A6CDBE85_up.disease_F57B2BBC6E54C31Fhttp://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/diseases/5451