http://purl.uniprot.org/keywords/897 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Concept |
http://purl.uniprot.org/keywords/897 | http://www.w3.org/2000/01/rdf-schema#subClassOf | http://purl.uniprot.org/keywords/209 |
http://purl.uniprot.org/keywords/897 | http://www.w3.org/2000/01/rdf-schema#subClassOf | http://purl.uniprot.org/core/Concept |
http://purl.uniprot.org/keywords/897 | http://www.w3.org/2000/01/rdf-schema#subClassOf | http://purl.uniprot.org/keywords/9995 |
http://purl.uniprot.org/keywords/897 | http://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/897 | http://www.w3.org/2004/02/skos/core#prefLabel | "Waardenburg syndrome"xsd:string |
http://purl.uniprot.org/keywords/897 | http://www.w3.org/2004/02/skos/core#altLabel | "WS"xsd:string |
http://purl.uniprot.org/keywords/897 | http://purl.uniprot.org/core/category | http://purl.uniprot.org/keywords/9995 |
http://purl.uniprot.org/diseases/1139 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/897 |
http://purl.uniprot.org/diseases/2677 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/897 |
http://purl.uniprot.org/diseases/1135 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/897 |
http://purl.uniprot.org/diseases/1133 | 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/keywords/897 |
http://purl.uniprot.org/diseases/6468 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/897 |
http://purl.uniprot.org/diseases/1136 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/897 |
http://purl.uniprot.org/diseases/1137 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/897 |
http://purl.uniprot.org/diseases/2676 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/897 |
http://purl.uniprot.org/diseases/909 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/897 |
http://purl.uniprot.org/uniprot/O75030 | http://purl.uniprot.org/core/classifiedWith | http://purl.uniprot.org/keywords/897 |
http://purl.uniprot.org/uniprot/P21583 | http://purl.uniprot.org/core/classifiedWith | http://purl.uniprot.org/keywords/897 |
http://purl.uniprot.org/uniprot/P23760 | http://purl.uniprot.org/core/classifiedWith | http://purl.uniprot.org/keywords/897 |
http://purl.uniprot.org/uniprot/P14679 | http://purl.uniprot.org/core/classifiedWith | http://purl.uniprot.org/keywords/897 |
http://purl.uniprot.org/uniprot/P56693 | http://purl.uniprot.org/core/classifiedWith | http://purl.uniprot.org/keywords/897 |
http://purl.uniprot.org/uniprot/O43623 | http://purl.uniprot.org/core/classifiedWith | http://purl.uniprot.org/keywords/897 |
http://purl.uniprot.org/uniprot/P14138 | http://purl.uniprot.org/core/classifiedWith | http://purl.uniprot.org/keywords/897 |