http://purl.uniprot.org/diseases/2638 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/2638 | http://www.w3.org/2000/01/rdf-schema#comment | "A disease characterized by progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay."xsd:string |
http://purl.uniprot.org/diseases/2638 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1274 |
http://purl.uniprot.org/diseases/2638 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/209 |
http://purl.uniprot.org/diseases/2638 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/898 |
http://purl.uniprot.org/diseases/2638 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/613076 |
http://purl.uniprot.org/diseases/2638 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D017240 |
http://purl.uniprot.org/diseases/2638 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C2751320 |
http://purl.uniprot.org/diseases/2638 | http://www.w3.org/2004/02/skos/core#prefLabel | "Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay"xsd:string |
http://purl.uniprot.org/diseases/2638 | http://purl.uniprot.org/core/mnemonic | "MPMCD"xsd:string |
http://purl.uniprot.org/diseases/2638 | http://www.w3.org/2004/02/skos/core#altLabel | "Combined mitochondrial complex deficiency"xsd:string |
http://purl.uniprot.org/diseases/2638 | http://www.w3.org/2004/02/skos/core#altLabel | "Myopathy with cataract and combined respiratory chain deficiency"xsd:string |
http://purl.uniprot.org/uniprot/P55789#SIP2A48917DA44EC589 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/2638 |
http://purl.uniprot.org/annotation/VAR_063435 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2638 |
http://purl.uniprot.org/uniprot/#_A2AA54180E0EC894_up.disease_F8138B54846BE219 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/2638 |