http://purl.uniprot.org/diseases/1156 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/1156 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-B patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex."xsd:string |
http://purl.uniprot.org/diseases/1156 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/857 |
http://purl.uniprot.org/diseases/1156 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/172 |
http://purl.uniprot.org/diseases/1156 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/610651 |
http://purl.uniprot.org/diseases/1156 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D014983 |
http://purl.uniprot.org/diseases/1156 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0268136 |
http://purl.uniprot.org/diseases/1156 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1970808 |
http://purl.uniprot.org/diseases/1156 | http://www.w3.org/2004/02/skos/core#prefLabel | "Xeroderma pigmentosum complementation group B"xsd:string |
http://purl.uniprot.org/diseases/1156 | http://purl.uniprot.org/core/mnemonic | "XP-B"xsd:string |
http://purl.uniprot.org/diseases/1156 | http://www.w3.org/2004/02/skos/core#altLabel | "XP2"xsd:string |
http://purl.uniprot.org/diseases/1156 | http://www.w3.org/2004/02/skos/core#altLabel | "XP group B"xsd:string |
http://purl.uniprot.org/diseases/1156 | http://www.w3.org/2004/02/skos/core#altLabel | "XP-B/CS"xsd:string |
http://purl.uniprot.org/diseases/1156 | http://www.w3.org/2004/02/skos/core#altLabel | "Xeroderma pigmentosum II"xsd:string |
http://purl.uniprot.org/diseases/1156 | http://www.w3.org/2004/02/skos/core#altLabel | "Xeroderma pigmentosum group B with Cockayne syndrome"xsd:string |
http://purl.uniprot.org/uniprot/P19447#SIP97C886D9178B4ED1 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/1156 |
http://purl.uniprot.org/annotation/VAR_003632 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1156 |
http://purl.uniprot.org/uniprot/#_7803904907407A6F_up.disease_8C4BE798D25807FC | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/1156 |