http://purl.uniprot.org/diseases/416 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/416 | http://www.w3.org/2000/01/rdf-schema#comment | "A primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions."xsd:string |
http://purl.uniprot.org/diseases/416 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1023 |
http://purl.uniprot.org/diseases/416 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/602629 |
http://purl.uniprot.org/diseases/416 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D004421 |
http://purl.uniprot.org/diseases/416 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1414216 |
http://purl.uniprot.org/diseases/416 | http://www.w3.org/2004/02/skos/core#prefLabel | "Dystonia 6, torsion"xsd:string |
http://purl.uniprot.org/diseases/416 | http://purl.uniprot.org/core/mnemonic | "DYT6"xsd:string |
http://purl.uniprot.org/diseases/416 | http://www.w3.org/2004/02/skos/core#altLabel | "Adult-onset torsion dystonia mixed type"xsd:string |
http://purl.uniprot.org/diseases/416 | http://www.w3.org/2004/02/skos/core#altLabel | "Autosomal dominant torsion dystonia 6"xsd:string |
http://purl.uniprot.org/diseases/416 | http://www.w3.org/2004/02/skos/core#altLabel | "Dystonia-6"xsd:string |
http://purl.uniprot.org/diseases/416 | http://www.w3.org/2004/02/skos/core#altLabel | "Torsion dystonia type 6"xsd:string |
http://purl.uniprot.org/uniprot/Q9NVV9#SIP889A660E3AFE871E | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/416 |
http://purl.uniprot.org/annotation/VAR_054788 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/416 |
http://purl.uniprot.org/annotation/VAR_065880 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/416 |
http://purl.uniprot.org/annotation/VAR_065881 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/416 |
http://purl.uniprot.org/annotation/VAR_065882 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/416 |
http://purl.uniprot.org/annotation/VAR_065883 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/416 |
http://purl.uniprot.org/annotation/VAR_065884 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/416 |
http://purl.uniprot.org/annotation/VAR_065885 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/416 |
http://purl.uniprot.org/annotation/VAR_065886 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/416 |
http://purl.uniprot.org/annotation/VAR_065887 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/416 |
http://purl.uniprot.org/annotation/VAR_066677 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/416 |
http://purl.uniprot.org/annotation/VAR_066678 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/416 |
http://purl.uniprot.org/annotation/VAR_066679 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/416 |