| http://purl.uniprot.org/diseases/1238 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/1238 | http://www.w3.org/2000/01/rdf-schema#comment | "A neurodegenerative disorder characterized by bradykinesia, rigidity, postural instability, tremor, and onset usually before 40. It differs from classic Parkinson disease by early DOPA-induced dyskinesia, diurnal fluctuation of the symptoms, sleep benefit, dystonia and hyper-reflexia. Dementia is absent. Pathologically, patients show loss of dopaminergic neurons in the substantia nigra, similar to that seen in Parkinson disease; however, Lewy bodies (intraneuronal accumulations of aggregated proteins) are absent."xsd:string |
| http://purl.uniprot.org/diseases/1238 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/523 |
| http://purl.uniprot.org/diseases/1238 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/908 |
| http://purl.uniprot.org/diseases/1238 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/907 |
| http://purl.uniprot.org/diseases/1238 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/600116 |
| http://purl.uniprot.org/diseases/1238 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D020734 |
| http://purl.uniprot.org/diseases/1238 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1868675 |
| http://purl.uniprot.org/diseases/1238 | http://www.w3.org/2004/02/skos/core#prefLabel | "Parkinson disease 2"xsd:string |
| http://purl.uniprot.org/diseases/1238 | http://purl.uniprot.org/core/mnemonic | "PARK2"xsd:string |
| http://purl.uniprot.org/diseases/1238 | http://www.w3.org/2004/02/skos/core#altLabel | "Autosomal recessive juvenile Parkinson disease"xsd:string |
| http://purl.uniprot.org/diseases/1238 | http://www.w3.org/2004/02/skos/core#altLabel | "EPDF"xsd:string |
| http://purl.uniprot.org/diseases/1238 | http://www.w3.org/2004/02/skos/core#altLabel | "Early-onset parkinsonism with diurnal fluctuation"xsd:string |
| http://purl.uniprot.org/diseases/1238 | http://www.w3.org/2004/02/skos/core#altLabel | "PDJ"xsd:string |
| http://purl.uniprot.org/diseases/1238 | http://www.w3.org/2004/02/skos/core#altLabel | "Parkinsonism young adult onset"xsd:string |
| http://purl.uniprot.org/diseases/1238 | http://www.w3.org/2004/02/skos/core#altLabel | "Autosomal recessive early-onset Parkinson disease type 2"xsd:string |
| http://purl.uniprot.org/diseases/1238 | http://www.w3.org/2004/02/skos/core#altLabel | "Chromosome 6-linked autosomal recessive parkinsonism"xsd:string |
| http://purl.uniprot.org/uniprot/O60260#SIP3D541E71C2C7C04C | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/1238 |
| http://purl.uniprot.org/annotation/VAR_019733 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1238 |
| http://purl.uniprot.org/annotation/VAR_019734 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1238 |
| http://purl.uniprot.org/annotation/VAR_019735 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1238 |
| http://purl.uniprot.org/annotation/VAR_019736 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1238 |
| http://purl.uniprot.org/annotation/VAR_019737 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1238 |
| http://purl.uniprot.org/annotation/VAR_019738 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1238 |
| http://purl.uniprot.org/annotation/VAR_019739 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1238 |