| http://purl.uniprot.org/diseases/1065 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/1065 | http://www.w3.org/2000/01/rdf-schema#comment | "A severe disease associated with mitochondrial dysfunction. Some patients are affected by progressive atrophy of the cerebellum, brain stem, the spinal cord, and sensory axonal neuropathy. Clinical features include hypotonia, athetosis, ataxia, ophthalmoplegia, sensorineural hearing deficit, sensory axonal neuropathy, epileptic encephalopathy and female hypogonadism. In some individuals liver dysfunction and multi-organ failure is present."xsd:string |
| http://purl.uniprot.org/diseases/1065 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1274 |
| http://purl.uniprot.org/diseases/1065 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/523 |
| http://purl.uniprot.org/diseases/1065 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/622 |
| http://purl.uniprot.org/diseases/1065 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/271245 |
| http://purl.uniprot.org/diseases/1065 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D020754 |
| http://purl.uniprot.org/diseases/1065 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1849096 |
| http://purl.uniprot.org/diseases/1065 | http://www.w3.org/2004/02/skos/core#prefLabel | "Mitochondrial DNA depletion syndrome 7"xsd:string |
| http://purl.uniprot.org/diseases/1065 | http://purl.uniprot.org/core/mnemonic | "MTDPS7"xsd:string |
| http://purl.uniprot.org/diseases/1065 | http://www.w3.org/2004/02/skos/core#altLabel | "SCA8"xsd:string |
| http://purl.uniprot.org/diseases/1065 | http://www.w3.org/2004/02/skos/core#altLabel | "Spinocerebellar ataxia 8"xsd:string |
| http://purl.uniprot.org/diseases/1065 | http://www.w3.org/2004/02/skos/core#altLabel | "Spinocerebellar ataxia infantile with sensory neuropathy"xsd:string |
| http://purl.uniprot.org/diseases/1065 | http://www.w3.org/2004/02/skos/core#altLabel | "IOSCA"xsd:string |
| http://purl.uniprot.org/diseases/1065 | http://www.w3.org/2004/02/skos/core#altLabel | "Ohaha syndrome"xsd:string |
| http://purl.uniprot.org/diseases/1065 | http://www.w3.org/2004/02/skos/core#altLabel | "Pure spinocerebellar ataxia Japanese type"xsd:string |
| http://purl.uniprot.org/diseases/1065 | http://www.w3.org/2004/02/skos/core#altLabel | "SCA4 pure Japanese type"xsd:string |
| http://purl.uniprot.org/diseases/1065 | http://www.w3.org/2004/02/skos/core#altLabel | "Spinocerebellar ataxia infantile-onset"xsd:string |
| http://purl.uniprot.org/diseases/1065 | http://www.w3.org/2004/02/skos/core#altLabel | "Mitochondrial DNA depletion syndrome 7 hepatocerebral type"xsd:string |
| http://purl.uniprot.org/diseases/1065 | http://www.w3.org/2004/02/skos/core#altLabel | "Ophthalmoplegia hypotonia ataxia hypoacusis and athetosis"xsd:string |
| http://purl.uniprot.org/uniprot/Q96RR1#SIPA7B6BA3D88021C72 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/1065 |
| http://purl.uniprot.org/annotation/VAR_039045 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1065 |
| http://purl.uniprot.org/annotation/VAR_043797 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1065 |
| http://purl.uniprot.org/annotation/VAR_065104 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1065 |
| http://purl.uniprot.org/annotation/VAR_065107 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1065 |