RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/diseases/3915http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/3915http://www.w3.org/2000/01/rdf-schema#comment"An autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content."xsd:string
http://purl.uniprot.org/diseases/3915http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/1274
http://purl.uniprot.org/diseases/3915http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/mim/615471
http://purl.uniprot.org/diseases/3915http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://id.nlm.nih.gov/mesh/D017237
http://purl.uniprot.org/diseases/3915http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/medgen/C3809592
http://purl.uniprot.org/diseases/3915http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/medgen/CN180190
http://purl.uniprot.org/diseases/3915http://www.w3.org/2004/02/skos/core#prefLabel"Mitochondrial DNA depletion syndrome 13"xsd:string
http://purl.uniprot.org/diseases/3915http://purl.uniprot.org/core/mnemonic"MTDPS13"xsd:string
http://purl.uniprot.org/diseases/3915http://www.w3.org/2004/02/skos/core#altLabel"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)"xsd:string
http://purl.uniprot.org/uniprot/Q9UKA2#SIP2A8535FF53EE7F22http://purl.uniprot.org/core/diseasehttp://purl.uniprot.org/diseases/3915
http://purl.uniprot.org/annotation/VAR_070858http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/3915
http://purl.uniprot.org/annotation/VAR_070859http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/3915
http://purl.uniprot.org/annotation/VAR_070860http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/3915
http://purl.uniprot.org/annotation/VAR_070861http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/3915
http://purl.uniprot.org/annotation/VAR_070862http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/3915
http://purl.uniprot.org/annotation/VAR_070863http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/3915
http://purl.uniprot.org/annotation/VAR_076547http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/3915
http://purl.uniprot.org/uniprot/#_32D00A19850199FA_up.disease_8098886473741173http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/diseases/3915