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http://purl.uniprot.org/diseases/5033http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/5033http://www.w3.org/2000/01/rdf-schema#comment"An autosomal recessive neurodegenerative disorder characterized by early-onset hypotonia which progresses to a pyramidal syndrome with ataxia, spasticity, hyperreflexia, weakness and loss of ambulation. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy."xsd:string
http://purl.uniprot.org/diseases/5033http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/1026
http://purl.uniprot.org/diseases/5033http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/523
http://purl.uniprot.org/diseases/5033http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/mim/617560
http://purl.uniprot.org/diseases/5033http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://id.nlm.nih.gov/mesh/D020279
http://purl.uniprot.org/diseases/5033http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/medgen/CN303160
http://purl.uniprot.org/diseases/5033http://www.w3.org/2004/02/skos/core#prefLabel"Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy"xsd:string
http://purl.uniprot.org/diseases/5033http://purl.uniprot.org/core/mnemonic"SPAX8"xsd:string
http://purl.uniprot.org/uniprot/Q9C056#SIP234A74BF13D90893http://purl.uniprot.org/core/diseasehttp://purl.uniprot.org/diseases/5033
http://purl.uniprot.org/annotation/VAR_079480http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/5033
http://purl.uniprot.org/annotation/VAR_079481http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/5033
http://purl.uniprot.org/uniprot/#_1DBB5B2418E24CFA_up.disease_F71E14564F082F8Ehttp://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/diseases/5033