| http://purl.uniprot.org/diseases/3934 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/3934 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria."xsd:string |
| http://purl.uniprot.org/diseases/3934 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/122 |
| http://purl.uniprot.org/diseases/3934 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1274 |
| http://purl.uniprot.org/diseases/3934 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/615418 |
| http://purl.uniprot.org/diseases/3934 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D017240 |
| http://purl.uniprot.org/diseases/3934 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C3809443 |
| http://purl.uniprot.org/diseases/3934 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN180172 |
| http://purl.uniprot.org/diseases/3934 | http://www.w3.org/2004/02/skos/core#prefLabel | "Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type"xsd:string |
| http://purl.uniprot.org/diseases/3934 | http://purl.uniprot.org/core/mnemonic | "MTDPS12B"xsd:string |
| http://purl.uniprot.org/diseases/3934 | http://www.w3.org/2004/02/skos/core#altLabel | "Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type, autosomal recessive"xsd:string |
| http://purl.uniprot.org/diseases/3934 | http://www.w3.org/2004/02/skos/core#altLabel | "Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive"xsd:string |
| http://purl.uniprot.org/uniprot/P12235#SIPF2223F16A8D567CB | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/3934 |
| http://purl.uniprot.org/annotation/VAR_038815 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3934 |
| http://purl.uniprot.org/annotation/VAR_078073 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3934 |
| http://purl.uniprot.org/uniprot/#_26F67E76C5F19A3C_up.disease_1FF8BAC68793DFB5 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/3934 |