http://purl.uniprot.org/diseases/2018 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/2018 | http://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/2018 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1274 |
http://purl.uniprot.org/diseases/2018 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/609560 |
http://purl.uniprot.org/diseases/2018 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D017240 |
http://purl.uniprot.org/diseases/2018 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C3149750 |
http://purl.uniprot.org/diseases/2018 | http://www.w3.org/2004/02/skos/core#prefLabel | "Mitochondrial DNA depletion syndrome 2"xsd:string |
http://purl.uniprot.org/diseases/2018 | http://purl.uniprot.org/core/mnemonic | "MTDPS2"xsd:string |
http://purl.uniprot.org/diseases/2018 | http://www.w3.org/2004/02/skos/core#altLabel | "Mitochondrial DNA depletion myopathy TK2-related"xsd:string |
http://purl.uniprot.org/diseases/2018 | http://www.w3.org/2004/02/skos/core#altLabel | "Myopathic mitochondrial DNA depletion syndrome"xsd:string |
http://purl.uniprot.org/diseases/2018 | http://www.w3.org/2004/02/skos/core#altLabel | "Mitochondrial DNA depletion syndrome 2 myopathic type"xsd:string |
http://purl.uniprot.org/uniprot/O00142#SIP37D6B2D975C76F24 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/2018 |
http://purl.uniprot.org/annotation/VAR_019419 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2018 |
http://purl.uniprot.org/annotation/VAR_019420 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2018 |
http://purl.uniprot.org/annotation/VAR_019421 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2018 |
http://purl.uniprot.org/annotation/VAR_019422 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2018 |
http://purl.uniprot.org/annotation/VAR_023790 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2018 |
http://purl.uniprot.org/annotation/VAR_023791 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2018 |
http://purl.uniprot.org/annotation/VAR_023792 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2018 |
http://purl.uniprot.org/annotation/VAR_072789 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2018 |
http://purl.uniprot.org/annotation/VAR_072790 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2018 |
http://purl.uniprot.org/uniprot/#_17A7A1C31B82770A_up.disease_FE765D85869D75CD | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/2018 |