http://purl.uniprot.org/diseases/5451 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/5451 | http://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/5451 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1012 |
http://purl.uniprot.org/diseases/5451 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/618300 |
http://purl.uniprot.org/diseases/5451 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D007619 |
http://purl.uniprot.org/diseases/5451 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN258165 |
http://purl.uniprot.org/diseases/5451 | http://www.w3.org/2004/02/skos/core#prefLabel | "Ciliary dyskinesia, primary, 40"xsd:string |
http://purl.uniprot.org/diseases/5451 | http://purl.uniprot.org/core/mnemonic | "CILD40"xsd:string |
http://purl.uniprot.org/diseases/5451 | http://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#SIP0897223D91325438 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/5451 |
http://purl.uniprot.org/annotation/VAR_081802 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5451 |
http://purl.uniprot.org/annotation/VAR_081803 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5451 |
http://purl.uniprot.org/annotation/VAR_081804 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5451 |
http://purl.uniprot.org/annotation/VAR_081805 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5451 |
http://purl.uniprot.org/annotation/VAR_081806 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5451 |
http://purl.uniprot.org/annotation/VAR_081807 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5451 |
http://purl.uniprot.org/annotation/VAR_081808 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5451 |
http://purl.uniprot.org/annotation/VAR_081809 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5451 |
http://purl.uniprot.org/uniprot/#_16446C37A6CDBE85_up.disease_F57B2BBC6E54C31F | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/5451 |