http://purl.uniprot.org/diseases/2020 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/2020 | http://www.w3.org/2000/01/rdf-schema#comment | "A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest progressive muscle weakness, exercise intolerance, lactic acidosis, sideroblastic anemia and delayed growth."xsd:string |
http://purl.uniprot.org/diseases/2020 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1274 |
http://purl.uniprot.org/diseases/2020 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/600462 |
http://purl.uniprot.org/diseases/2020 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D000140 |
http://purl.uniprot.org/diseases/2020 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D000756 |
http://purl.uniprot.org/diseases/2020 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1838103 |
http://purl.uniprot.org/diseases/2020 | http://www.w3.org/2004/02/skos/core#prefLabel | "Myopathy with lactic acidosis and sideroblastic anemia 1"xsd:string |
http://purl.uniprot.org/diseases/2020 | http://purl.uniprot.org/core/mnemonic | "MLASA1"xsd:string |
http://purl.uniprot.org/diseases/2020 | http://www.w3.org/2004/02/skos/core#altLabel | "Mitochondrial myopathy and sideroblastic anemia"xsd:string |
http://purl.uniprot.org/uniprot/Q9Y606#SIPF0B611FC42B5133C | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/2020 |
http://purl.uniprot.org/annotation/VAR_021788 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2020 |
http://purl.uniprot.org/annotation/VAR_086155 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2020 |
http://purl.uniprot.org/annotation/VAR_086156 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2020 |
http://purl.uniprot.org/annotation/VAR_086157 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2020 |
http://purl.uniprot.org/annotation/VAR_086158 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2020 |
http://purl.uniprot.org/annotation/VAR_086159 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2020 |
http://purl.uniprot.org/uniprot/#_C8AF1869A5A2CE7B_up.disease_A19CDEEFA55C5D01 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/2020 |