http://purl.uniprot.org/diseases/3145 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/3145 | 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. SPG47 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe intellectual disability with poor or absent speech development."xsd:string |
http://purl.uniprot.org/diseases/3145 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/890 |
http://purl.uniprot.org/diseases/3145 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/614066 |
http://purl.uniprot.org/diseases/3145 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D002547 |
http://purl.uniprot.org/diseases/3145 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D015419 |
http://purl.uniprot.org/diseases/3145 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C3279738 |
http://purl.uniprot.org/diseases/3145 | http://www.w3.org/2004/02/skos/core#prefLabel | "Spastic paraplegia 47, autosomal recessive"xsd:string |
http://purl.uniprot.org/diseases/3145 | http://purl.uniprot.org/core/mnemonic | "SPG47"xsd:string |
http://purl.uniprot.org/diseases/3145 | http://www.w3.org/2004/02/skos/core#altLabel | "CPSQ5"xsd:string |
http://purl.uniprot.org/diseases/3145 | http://www.w3.org/2004/02/skos/core#altLabel | "Cerebral palsy, spastic quadriplegic 5"xsd:string |
http://purl.uniprot.org/uniprot/Q9Y6B7#SIP2F2405C35DC46EF9 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/3145 |
http://purl.uniprot.org/uniprot/#_9382BEEC62166EF3_up.disease_EE40C167771F08BA | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/3145 |