RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/diseases/2018http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/2018http://www.w3.org/2000/01/rdf-schema#comment"A disorder due to mitochondrial dysfunction characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle. There is wide clinical variability; some patients have onset in infancy and show a rapidly progressive course with early death due to respiratory failure, whereas others have later onset of a slowly progressive myopathy."xsd:string
http://purl.uniprot.org/diseases/2018http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/1274
http://purl.uniprot.org/diseases/2018http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/mim/609560
http://purl.uniprot.org/diseases/2018http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://id.nlm.nih.gov/mesh/D017240
http://purl.uniprot.org/diseases/2018http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/medgen/C3149750
http://purl.uniprot.org/diseases/2018http://www.w3.org/2004/02/skos/core#prefLabel"Mitochondrial DNA depletion syndrome 2"xsd:string
http://purl.uniprot.org/diseases/2018http://purl.uniprot.org/core/mnemonic"MTDPS2"xsd:string
http://purl.uniprot.org/diseases/2018http://www.w3.org/2004/02/skos/core#altLabel"Mitochondrial DNA depletion myopathy TK2-related"xsd:string
http://purl.uniprot.org/diseases/2018http://www.w3.org/2004/02/skos/core#altLabel"Myopathic mitochondrial DNA depletion syndrome"xsd:string
http://purl.uniprot.org/diseases/2018http://www.w3.org/2004/02/skos/core#altLabel"Mitochondrial DNA depletion syndrome 2 myopathic type"xsd:string
http://purl.uniprot.org/uniprot/O00142#SIP37D6B2D975C76F24http://purl.uniprot.org/core/diseasehttp://purl.uniprot.org/diseases/2018
http://purl.uniprot.org/annotation/VAR_019419http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/2018
http://purl.uniprot.org/annotation/VAR_019420http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/2018
http://purl.uniprot.org/annotation/VAR_019421http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/2018
http://purl.uniprot.org/annotation/VAR_019422http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/2018
http://purl.uniprot.org/annotation/VAR_023790http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/2018
http://purl.uniprot.org/annotation/VAR_023791http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/2018
http://purl.uniprot.org/annotation/VAR_023792http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/2018
http://purl.uniprot.org/annotation/VAR_072789http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/2018
http://purl.uniprot.org/annotation/VAR_072790http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/2018
http://purl.uniprot.org/uniprot/#_17A7A1C31B82770A_up.disease_FE765D85869D75CDhttp://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/diseases/2018