http://purl.uniprot.org/diseases/5033 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/5033 | http://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/5033 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1026 |
http://purl.uniprot.org/diseases/5033 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/523 |
http://purl.uniprot.org/diseases/5033 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/617560 |
http://purl.uniprot.org/diseases/5033 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D020279 |
http://purl.uniprot.org/diseases/5033 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN303160 |
http://purl.uniprot.org/diseases/5033 | http://www.w3.org/2004/02/skos/core#prefLabel | "Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy"xsd:string |
http://purl.uniprot.org/diseases/5033 | http://purl.uniprot.org/core/mnemonic | "SPAX8"xsd:string |
http://purl.uniprot.org/uniprot/Q9C056#SIP234A74BF13D90893 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/5033 |
http://purl.uniprot.org/annotation/VAR_079480 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5033 |
http://purl.uniprot.org/annotation/VAR_079481 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5033 |
http://purl.uniprot.org/uniprot/#_1DBB5B2418E24CFA_up.disease_F71E14564F082F8E | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/5033 |