http://purl.uniprot.org/diseases/6689 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/6689 | 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 weakness and stiffness may spread to other parts of the body. SPG89 affected individuals show delayed motor development, abnormal spastic gait, and hyperreflexia of the lower limbs. Some patients may have mildly impaired intellectual development or learning difficulties. SPG89 disease onset is in the first years of life."xsd:string |
http://purl.uniprot.org/diseases/6689 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/890 |
http://purl.uniprot.org/diseases/6689 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/620379 |
http://purl.uniprot.org/diseases/6689 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D015419 |
http://purl.uniprot.org/diseases/6689 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN371829 |
http://purl.uniprot.org/diseases/6689 | http://www.w3.org/2004/02/skos/core#prefLabel | "Spastic paraplegia 89, autosomal recessive"xsd:string |
http://purl.uniprot.org/diseases/6689 | http://purl.uniprot.org/core/mnemonic | "SPG89"xsd:string |
http://purl.uniprot.org/uniprot/Q9UKV5#SIP840EEC96A382AEA4 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/6689 |
http://purl.uniprot.org/annotation/VAR_088630 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6689 |
http://purl.uniprot.org/annotation/VAR_088631 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6689 |
http://purl.uniprot.org/annotation/VAR_088632 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6689 |
http://purl.uniprot.org/annotation/VAR_088633 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6689 |
http://purl.uniprot.org/uniprot/#_8B45642457E552BC_up.disease_EFDF0A85F7022A82 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/6689 |