http://purl.uniprot.org/diseases/1119 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/1119 | http://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/1119 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/682 |
http://purl.uniprot.org/diseases/1119 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/836 |
http://purl.uniprot.org/diseases/1119 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/605472 |
http://purl.uniprot.org/diseases/1119 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D052245 |
http://purl.uniprot.org/diseases/1119 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1854237 |
http://purl.uniprot.org/diseases/1119 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C2676439 |
http://purl.uniprot.org/diseases/1119 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C2931213 |
http://purl.uniprot.org/diseases/1119 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C3148929 |
http://purl.uniprot.org/diseases/1119 | http://www.w3.org/2004/02/skos/core#prefLabel | "Usher syndrome 2C"xsd:string |
http://purl.uniprot.org/diseases/1119 | http://purl.uniprot.org/core/mnemonic | "USH2C"xsd:string |
http://purl.uniprot.org/diseases/1119 | http://www.w3.org/2004/02/skos/core#altLabel | "Usher syndrome type IIC"xsd:string |
http://purl.uniprot.org/diseases/1119 | http://www.w3.org/2004/02/skos/core#altLabel | "Usher syndrome type IIC GPR98/PDZD7 digenic"xsd:string |
http://purl.uniprot.org/diseases/1119 | http://www.w3.org/2004/02/skos/core#altLabel | "Usher's syndrome type 2C"xsd:string |
http://purl.uniprot.org/uniprot/Q8WXG9#SIP20E585948ACF8170 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/1119 |
http://purl.uniprot.org/uniprot/Q9H5P4#SIPFB20AF1D56E8EFE2 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/1119 |
http://purl.uniprot.org/annotation/VAR_068032 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1119 |
http://purl.uniprot.org/annotation/VAR_068033 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1119 |
http://purl.uniprot.org/uniprot/#_1618A817005015E0_up.disease_D95E3FBDC47D3BEC | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/1119 |
http://purl.uniprot.org/uniprot/#_82CB9EDEE11DD0FB_up.disease_D95E3FBDC47D3BEC | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/1119 |