http://purl.uniprot.org/diseases/1113 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/1113 | 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). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness."xsd:string |
http://purl.uniprot.org/diseases/1113 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/682 |
http://purl.uniprot.org/diseases/1113 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/836 |
http://purl.uniprot.org/diseases/1113 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/276904 |
http://purl.uniprot.org/diseases/1113 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D052245 |
http://purl.uniprot.org/diseases/1113 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1848604 |
http://purl.uniprot.org/diseases/1113 | http://www.w3.org/2004/02/skos/core#prefLabel | "Usher syndrome 1C"xsd:string |
http://purl.uniprot.org/diseases/1113 | http://purl.uniprot.org/core/mnemonic | "USH1C"xsd:string |
http://purl.uniprot.org/diseases/1113 | http://www.w3.org/2004/02/skos/core#altLabel | "Acadian Usher syndrome"xsd:string |
http://purl.uniprot.org/diseases/1113 | http://www.w3.org/2004/02/skos/core#altLabel | "Usher syndrome type I Acadian variety"xsd:string |
http://purl.uniprot.org/diseases/1113 | http://www.w3.org/2004/02/skos/core#altLabel | "Usher syndrome type IC"xsd:string |
http://purl.uniprot.org/diseases/1113 | http://www.w3.org/2004/02/skos/core#altLabel | "Usher's syndrome type 1C"xsd:string |
http://purl.uniprot.org/uniprot/Q9Y6N9#SIP0F6775D4796466C0 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/1113 |
http://purl.uniprot.org/uniprot/#_F906F6DF955037A5_up.disease_FF0D40152946648A | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/1113 |