| http://purl.uniprot.org/diseases/1239 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/1239 | http://www.w3.org/2000/01/rdf-schema#comment | "An early-onset form of Parkinson disease, a neurodegenerative disorder characterized by parkinsonian signs such as rigidity, resting tremor and bradykinesia. A subset of patients manifest additional symptoms including hyperreflexia, autonomic instability, dementia and psychiatric disturbances. Symptoms show diurnal fluctuation and can improve after sleep. PARK6 pathogenesis involves respiratory complex I deficiency causing mitochondrial depolarization and dysfunction. Inheritance is autosomal recessive."xsd:string |
| http://purl.uniprot.org/diseases/1239 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1274 |
| http://purl.uniprot.org/diseases/1239 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/523 |
| http://purl.uniprot.org/diseases/1239 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/908 |
| http://purl.uniprot.org/diseases/1239 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/907 |
| http://purl.uniprot.org/diseases/1239 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/605909 |
| http://purl.uniprot.org/diseases/1239 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D010300 |
| http://purl.uniprot.org/diseases/1239 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D020734 |
| http://purl.uniprot.org/diseases/1239 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1853833 |
| http://purl.uniprot.org/diseases/1239 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1970035 |
| http://purl.uniprot.org/diseases/1239 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C2751533 |
| http://purl.uniprot.org/diseases/1239 | http://www.w3.org/2004/02/skos/core#prefLabel | "Parkinson disease 6"xsd:string |
| http://purl.uniprot.org/diseases/1239 | http://purl.uniprot.org/core/mnemonic | "PARK6"xsd:string |
| http://purl.uniprot.org/diseases/1239 | http://www.w3.org/2004/02/skos/core#altLabel | "Parkinson disease 6 early-onset"xsd:string |
| http://purl.uniprot.org/diseases/1239 | http://www.w3.org/2004/02/skos/core#altLabel | "Parkinson disease 6 late-onset susceptibility to"xsd:string |
| http://purl.uniprot.org/diseases/1239 | http://www.w3.org/2004/02/skos/core#altLabel | "Parkinsonism young adult onset"xsd:string |
| http://purl.uniprot.org/diseases/1239 | http://www.w3.org/2004/02/skos/core#altLabel | "Autosomal recessive early-onset Parkinson disease type 6"xsd:string |
| http://purl.uniprot.org/diseases/1239 | http://www.w3.org/2004/02/skos/core#altLabel | "Parkinson disease autosomal recessive early-onset digenic PINK1/DJ1"xsd:string |
| http://purl.uniprot.org/uniprot/Q9BXM7#SIPA0BB7E57958CE2DF | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/1239 |
| http://purl.uniprot.org/annotation/VAR_018994 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1239 |
| http://purl.uniprot.org/annotation/VAR_046568 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1239 |
| http://purl.uniprot.org/annotation/VAR_046574 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1239 |
| http://purl.uniprot.org/annotation/VAR_046575 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1239 |
| http://purl.uniprot.org/annotation/VAR_046577 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1239 |