http://purl.uniprot.org/diseases/3539 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/3539 | http://www.w3.org/2000/01/rdf-schema#comment | "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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome."xsd:string |
http://purl.uniprot.org/diseases/3539 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1012 |
http://purl.uniprot.org/diseases/3539 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/614874 |
http://purl.uniprot.org/diseases/3539 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D007619 |
http://purl.uniprot.org/diseases/3539 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C3543825 |
http://purl.uniprot.org/diseases/3539 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN158803 |
http://purl.uniprot.org/diseases/3539 | http://www.w3.org/2004/02/skos/core#prefLabel | "Ciliary dyskinesia, primary, 18"xsd:string |
http://purl.uniprot.org/diseases/3539 | http://purl.uniprot.org/core/mnemonic | "CILD18"xsd:string |
http://purl.uniprot.org/diseases/3539 | http://www.w3.org/2004/02/skos/core#altLabel | "ICS18"xsd:string |
http://purl.uniprot.org/diseases/3539 | http://www.w3.org/2004/02/skos/core#altLabel | "Immotile cilia syndrome 18"xsd:string |
http://purl.uniprot.org/diseases/3539 | http://www.w3.org/2004/02/skos/core#altLabel | "Primary ciliary dyskinesia 18 with or without situs inversus"xsd:string |
http://purl.uniprot.org/uniprot/Q86Y56#SIP771B5B92414F93DA | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/3539 |
http://purl.uniprot.org/annotation/VAR_068969 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3539 |
http://purl.uniprot.org/uniprot/#_36E8FBB736143E37_up.disease_217F16B5CF25F3DD | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/3539 |