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http://purl.uniprot.org/keywords/897http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Concept
http://purl.uniprot.org/keywords/897http://www.w3.org/2000/01/rdf-schema#subClassOfhttp://purl.uniprot.org/keywords/209
http://purl.uniprot.org/keywords/897http://www.w3.org/2000/01/rdf-schema#subClassOfhttp://purl.uniprot.org/core/Concept
http://purl.uniprot.org/keywords/897http://www.w3.org/2000/01/rdf-schema#subClassOfhttp://purl.uniprot.org/keywords/9995
http://purl.uniprot.org/keywords/897http://www.w3.org/2000/01/rdf-schema#comment"Protein which, if defective, causes Waardenburg syndrome, an autosomal dominant disorder, characterized by sensorineural deafness associated with pigmentary changes of the irides, hair and skin; each of these features may be uni- or bilateral. On the basis of the presence or absence of dystopia canthorum (lateral displacement of the inner corner of the eye), Waardenburg syndrome type 1 (WS1) and type 2 (WS2) are distinguished. Additionally, the association of WS1 with limb anomalies defines Waardenburg syndrome type 3 (WS3), while the association of Waardenburg features with Hirschsprung disease defines Waardenburg syndrome type 4 (WS4)."xsd:string
http://purl.uniprot.org/keywords/897http://www.w3.org/2004/02/skos/core#prefLabel"Waardenburg syndrome"xsd:string
http://purl.uniprot.org/keywords/897http://www.w3.org/2004/02/skos/core#altLabel"WS"xsd:string
http://purl.uniprot.org/keywords/897http://purl.uniprot.org/core/categoryhttp://purl.uniprot.org/keywords/9995
http://purl.uniprot.org/diseases/1139http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/897
http://purl.uniprot.org/diseases/2677http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/897
http://purl.uniprot.org/diseases/1135http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/897
http://purl.uniprot.org/diseases/1133http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/897
http://purl.uniprot.org/diseases/1138http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/897
http://purl.uniprot.org/diseases/6468http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/897
http://purl.uniprot.org/diseases/1136http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/897
http://purl.uniprot.org/diseases/1137http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/897
http://purl.uniprot.org/diseases/2676http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/897
http://purl.uniprot.org/diseases/909http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/897
http://purl.uniprot.org/uniprot/O75030http://purl.uniprot.org/core/classifiedWithhttp://purl.uniprot.org/keywords/897
http://purl.uniprot.org/uniprot/P21583http://purl.uniprot.org/core/classifiedWithhttp://purl.uniprot.org/keywords/897
http://purl.uniprot.org/uniprot/P23760http://purl.uniprot.org/core/classifiedWithhttp://purl.uniprot.org/keywords/897
http://purl.uniprot.org/uniprot/P14679http://purl.uniprot.org/core/classifiedWithhttp://purl.uniprot.org/keywords/897
http://purl.uniprot.org/uniprot/P56693http://purl.uniprot.org/core/classifiedWithhttp://purl.uniprot.org/keywords/897
http://purl.uniprot.org/uniprot/O43623http://purl.uniprot.org/core/classifiedWithhttp://purl.uniprot.org/keywords/897
http://purl.uniprot.org/uniprot/P14138http://purl.uniprot.org/core/classifiedWithhttp://purl.uniprot.org/keywords/897