http://purl.uniprot.org/diseases/3061 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/3061 | http://www.w3.org/2000/01/rdf-schema#comment | "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG51 is a non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest motor and posture impairments often associated with epilepsy and disturbances of cognition, behavior, sensation, and communication."xsd:string |
http://purl.uniprot.org/diseases/3061 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/890 |
http://purl.uniprot.org/diseases/3061 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/613744 |
http://purl.uniprot.org/diseases/3061 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D002547 |
http://purl.uniprot.org/diseases/3061 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D015419 |
http://purl.uniprot.org/diseases/3061 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C3151056 |
http://purl.uniprot.org/diseases/3061 | http://www.w3.org/2004/02/skos/core#prefLabel | "Spastic paraplegia 51, autosomal recessive"xsd:string |
http://purl.uniprot.org/diseases/3061 | http://purl.uniprot.org/core/mnemonic | "SPG51"xsd:string |
http://purl.uniprot.org/diseases/3061 | http://www.w3.org/2004/02/skos/core#altLabel | "CPSQ4"xsd:string |
http://purl.uniprot.org/diseases/3061 | http://www.w3.org/2004/02/skos/core#altLabel | "Cerebral palsy, spastic quadriplegic 4"xsd:string |
http://purl.uniprot.org/uniprot/Q9UPM8#SIPC3733B6519ACEC79 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/3061 |
http://purl.uniprot.org/uniprot/#_3EE85462D1F0B985_up.disease_9AFF1DB47644C263 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/3061 |