RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/diseases/1118http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/1118http://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/1118http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/682
http://purl.uniprot.org/diseases/1118http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/836
http://purl.uniprot.org/diseases/1118http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/mim/276901
http://purl.uniprot.org/diseases/1118http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://id.nlm.nih.gov/mesh/D052245
http://purl.uniprot.org/diseases/1118http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/medgen/C1848634
http://purl.uniprot.org/diseases/1118http://www.w3.org/2004/02/skos/core#prefLabel"Usher syndrome 2A"xsd:string
http://purl.uniprot.org/diseases/1118http://purl.uniprot.org/core/mnemonic"USH2A"xsd:string
http://purl.uniprot.org/diseases/1118http://www.w3.org/2004/02/skos/core#altLabel"USHIIa"xsd:string
http://purl.uniprot.org/diseases/1118http://www.w3.org/2004/02/skos/core#altLabel"Usher syndrome type IIA"xsd:string
http://purl.uniprot.org/diseases/1118http://www.w3.org/2004/02/skos/core#altLabel"Usher syndrome type IIa"xsd:string
http://purl.uniprot.org/diseases/1118http://www.w3.org/2004/02/skos/core#altLabel"Usher's syndrome type 2A"xsd:string
http://purl.uniprot.org/uniprot/Q9H5P4#SIP79613985B67C64EChttp://purl.uniprot.org/core/diseasehttp://purl.uniprot.org/diseases/1118
http://purl.uniprot.org/uniprot/O75445#SIPC0BA66FB6BE41D76http://purl.uniprot.org/core/diseasehttp://purl.uniprot.org/diseases/1118
http://purl.uniprot.org/annotation/VAR_025761http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1118
http://purl.uniprot.org/annotation/VAR_025762http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1118
http://purl.uniprot.org/annotation/VAR_025763http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1118
http://purl.uniprot.org/annotation/VAR_025764http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1118
http://purl.uniprot.org/annotation/VAR_025765http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1118
http://purl.uniprot.org/annotation/VAR_025766http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1118
http://purl.uniprot.org/annotation/VAR_025767http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1118
http://purl.uniprot.org/annotation/VAR_025768http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1118
http://purl.uniprot.org/annotation/VAR_025769http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1118
http://purl.uniprot.org/annotation/VAR_025770http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1118