http://purl.uniprot.org/diseases/1138 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/1138 | http://www.w3.org/2000/01/rdf-schema#comment | "WS3 is an autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, dystopia canthorum and limb anomalies such as hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, syndactylies."xsd:string |
http://purl.uniprot.org/diseases/1138 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/897 |
http://purl.uniprot.org/diseases/1138 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/148820 |
http://purl.uniprot.org/diseases/1138 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D014849 |
http://purl.uniprot.org/diseases/1138 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0079661 |
http://purl.uniprot.org/diseases/1138 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0342680 |
http://purl.uniprot.org/diseases/1138 | http://www.w3.org/2004/02/skos/core#prefLabel | "Waardenburg syndrome 3"xsd:string |
http://purl.uniprot.org/diseases/1138 | http://purl.uniprot.org/core/mnemonic | "WS3"xsd:string |
http://purl.uniprot.org/diseases/1138 | http://www.w3.org/2004/02/skos/core#altLabel | "Klein-Waardenburg syndrome"xsd:string |
http://purl.uniprot.org/diseases/1138 | http://www.w3.org/2004/02/skos/core#altLabel | "Waardenburg syndrome with upper limb anomalies"xsd:string |
http://purl.uniprot.org/diseases/1138 | http://www.w3.org/2004/02/skos/core#altLabel | "White forelock with malformations"xsd:string |
http://purl.uniprot.org/uniprot/P23760#SIP182E7067BC09392A | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/1138 |
http://purl.uniprot.org/annotation/VAR_003791 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1138 |
http://purl.uniprot.org/annotation/VAR_003801 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1138 |
http://purl.uniprot.org/annotation/VAR_013619 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1138 |
http://purl.uniprot.org/annotation/VAR_017535 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1138 |
http://purl.uniprot.org/uniprot/#_5821C4F3D21D42FB_up.disease_3F028981E321080F | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/1138 |