http://purl.uniprot.org/diseases/6330 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/6330 | 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. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG86 is an autosomal recessive form associated with impaired intellectual development, poor or absent speech, and behavioral abnormalities. Brain imaging shows thin corpus callosum and white matter abnormalities. Rare patients may have seizures."xsd:string |
http://purl.uniprot.org/diseases/6330 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/619735 |
http://purl.uniprot.org/diseases/6330 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/890 |
http://purl.uniprot.org/diseases/6330 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D015419 |
http://purl.uniprot.org/diseases/6330 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN306413 |
http://purl.uniprot.org/diseases/6330 | http://www.w3.org/2004/02/skos/core#prefLabel | "Spastic paraplegia 86, autosomal recessive"xsd:string |
http://purl.uniprot.org/diseases/6330 | http://purl.uniprot.org/core/mnemonic | "SPG86"xsd:string |
http://purl.uniprot.org/uniprot/O95870#SIP96056CC6F29AB4D6 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/6330 |
http://purl.uniprot.org/annotation/VAR_086886 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6330 |
http://purl.uniprot.org/annotation/VAR_086887 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6330 |
http://purl.uniprot.org/annotation/VAR_086888 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6330 |
http://purl.uniprot.org/annotation/VAR_086889 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6330 |
http://purl.uniprot.org/annotation/VAR_086890 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6330 |
http://purl.uniprot.org/annotation/VAR_086891 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6330 |
http://purl.uniprot.org/annotation/VAR_086892 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6330 |
http://purl.uniprot.org/annotation/VAR_086893 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6330 |
http://purl.uniprot.org/uniprot/#_4B1FA3B0A41FC16C_up.disease_24EEF82C910CEAC0 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/6330 |