| http://purl.uniprot.org/diseases/1014 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/1014 | http://www.w3.org/2000/01/rdf-schema#comment | "A systemic disorder resulting from mitochondrial dysfunction associated with mitochondrial depletion in skeletal muscle and peripheral nerve tissue. The clinical triad of symptoms consists of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. However, the phenotype varies widely, even within the same family, and can also include myopathy, seizures, and hearing loss."xsd:string |
| http://purl.uniprot.org/diseases/1014 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1274 |
| http://purl.uniprot.org/diseases/1014 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/622 |
| http://purl.uniprot.org/diseases/1014 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/607459 |
| http://purl.uniprot.org/diseases/1014 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D015417 |
| http://purl.uniprot.org/diseases/1014 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1843851 |
| http://purl.uniprot.org/diseases/1014 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1843852 |
| http://purl.uniprot.org/diseases/1014 | http://www.w3.org/2004/02/skos/core#prefLabel | "Sensory ataxic neuropathy dysarthria and ophthalmoparesis"xsd:string |
| http://purl.uniprot.org/diseases/1014 | http://purl.uniprot.org/core/mnemonic | "SANDO"xsd:string |
| http://purl.uniprot.org/diseases/1014 | http://www.w3.org/2004/02/skos/core#altLabel | "SCAE"xsd:string |
| http://purl.uniprot.org/diseases/1014 | http://www.w3.org/2004/02/skos/core#altLabel | "Spinocerebellar ataxia with epilepsy"xsd:string |
| http://purl.uniprot.org/diseases/1014 | http://www.w3.org/2004/02/skos/core#altLabel | "Mitochondrial spinocerebellar ataxia-epilepsy syndrome"xsd:string |
| http://purl.uniprot.org/diseases/1014 | http://www.w3.org/2004/02/skos/core#altLabel | "Sensory ataxic neuropathy with mitochondrial DNA deletions autosomal recessive"xsd:string |
| http://purl.uniprot.org/diseases/1014 | http://www.w3.org/2004/02/skos/core#altLabel | "MIRAS"xsd:string |
| http://purl.uniprot.org/diseases/1014 | http://www.w3.org/2004/02/skos/core#altLabel | "MSCAE"xsd:string |
| http://purl.uniprot.org/diseases/1014 | http://www.w3.org/2004/02/skos/core#altLabel | "Mitochondrial recessive ataxia syndrome"xsd:string |
| http://purl.uniprot.org/uniprot/P54098#SIPC755204A65D2606A | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/1014 |
| http://purl.uniprot.org/annotation/VAR_012153 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1014 |
| http://purl.uniprot.org/annotation/VAR_012154 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1014 |
| http://purl.uniprot.org/annotation/VAR_012155 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1014 |
| http://purl.uniprot.org/annotation/VAR_012156 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1014 |
| http://purl.uniprot.org/annotation/VAR_023669 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1014 |
| http://purl.uniprot.org/annotation/VAR_023672 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1014 |
| http://purl.uniprot.org/annotation/VAR_023673 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1014 |