RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/diseases/1119http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/1119http://www.w3.org/2000/01/rdf-schema#comment"USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses."xsd:string
http://purl.uniprot.org/diseases/1119http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/682
http://purl.uniprot.org/diseases/1119http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/836
http://purl.uniprot.org/diseases/1119http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/mim/605472
http://purl.uniprot.org/diseases/1119http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://id.nlm.nih.gov/mesh/D052245
http://purl.uniprot.org/diseases/1119http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/medgen/C1854237
http://purl.uniprot.org/diseases/1119http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/medgen/C2676439
http://purl.uniprot.org/diseases/1119http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/medgen/C2931213
http://purl.uniprot.org/diseases/1119http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/medgen/C3148929
http://purl.uniprot.org/diseases/1119http://www.w3.org/2004/02/skos/core#prefLabel"Usher syndrome 2C"xsd:string
http://purl.uniprot.org/diseases/1119http://purl.uniprot.org/core/mnemonic"USH2C"xsd:string
http://purl.uniprot.org/diseases/1119http://www.w3.org/2004/02/skos/core#altLabel"Usher syndrome type IIC"xsd:string
http://purl.uniprot.org/diseases/1119http://www.w3.org/2004/02/skos/core#altLabel"Usher syndrome type IIC GPR98/PDZD7 digenic"xsd:string
http://purl.uniprot.org/diseases/1119http://www.w3.org/2004/02/skos/core#altLabel"Usher's syndrome type 2C"xsd:string
http://purl.uniprot.org/uniprot/Q8WXG9#SIP20E585948ACF8170http://purl.uniprot.org/core/diseasehttp://purl.uniprot.org/diseases/1119
http://purl.uniprot.org/uniprot/Q9H5P4#SIPFB20AF1D56E8EFE2http://purl.uniprot.org/core/diseasehttp://purl.uniprot.org/diseases/1119
http://purl.uniprot.org/annotation/VAR_068032http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1119
http://purl.uniprot.org/annotation/VAR_068033http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1119
http://purl.uniprot.org/uniprot/#_1618A817005015E0_up.disease_D95E3FBDC47D3BEChttp://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/diseases/1119
http://purl.uniprot.org/uniprot/#_82CB9EDEE11DD0FB_up.disease_D95E3FBDC47D3BEChttp://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/diseases/1119