http://purl.uniprot.org/diseases/3915 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/3915 | http://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/3915 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1274 |
http://purl.uniprot.org/diseases/3915 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/615471 |
http://purl.uniprot.org/diseases/3915 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D017237 |
http://purl.uniprot.org/diseases/3915 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C3809592 |
http://purl.uniprot.org/diseases/3915 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN180190 |
http://purl.uniprot.org/diseases/3915 | http://www.w3.org/2004/02/skos/core#prefLabel | "Mitochondrial DNA depletion syndrome 13"xsd:string |
http://purl.uniprot.org/diseases/3915 | http://purl.uniprot.org/core/mnemonic | "MTDPS13"xsd:string |
http://purl.uniprot.org/diseases/3915 | http://www.w3.org/2004/02/skos/core#altLabel | "Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)"xsd:string |
http://purl.uniprot.org/uniprot/Q9UKA2#SIP2A8535FF53EE7F22 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/3915 |
http://purl.uniprot.org/annotation/VAR_070858 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3915 |
http://purl.uniprot.org/annotation/VAR_070859 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3915 |
http://purl.uniprot.org/annotation/VAR_070860 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3915 |
http://purl.uniprot.org/annotation/VAR_070861 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3915 |
http://purl.uniprot.org/annotation/VAR_070862 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3915 |
http://purl.uniprot.org/annotation/VAR_070863 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3915 |
http://purl.uniprot.org/annotation/VAR_076547 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3915 |
http://purl.uniprot.org/uniprot/#_32D00A19850199FA_up.disease_8098886473741173 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/3915 |