http://purl.uniprot.org/diseases/3146 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/3146 | 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. SPG52 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe intellectual disability with poor or absent speech development. Some patients may have seizures."xsd:string |
http://purl.uniprot.org/diseases/3146 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/890 |
http://purl.uniprot.org/diseases/3146 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/614067 |
http://purl.uniprot.org/diseases/3146 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D002547 |
http://purl.uniprot.org/diseases/3146 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D015419 |
http://purl.uniprot.org/diseases/3146 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C3279743 |
http://purl.uniprot.org/diseases/3146 | http://www.w3.org/2004/02/skos/core#prefLabel | "Spastic paraplegia 52, autosomal recessive"xsd:string |
http://purl.uniprot.org/diseases/3146 | http://purl.uniprot.org/core/mnemonic | "SPG52"xsd:string |
http://purl.uniprot.org/diseases/3146 | http://www.w3.org/2004/02/skos/core#altLabel | "CPSQ6"xsd:string |
http://purl.uniprot.org/diseases/3146 | http://www.w3.org/2004/02/skos/core#altLabel | "Cerebral palsy, spastic quadriplegic 6"xsd:string |
http://purl.uniprot.org/uniprot/Q9Y587#SIP8F2100050894FD55 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/3146 |
http://purl.uniprot.org/uniprot/#_F9441A506BB0EF45_up.disease_E111F98FD08B9307 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/3146 |