http://purl.uniprot.org/diseases/2406 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/2406 | http://www.w3.org/2000/01/rdf-schema#comment | "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and 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/2406 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/682 |
http://purl.uniprot.org/diseases/2406 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/836 |
http://purl.uniprot.org/diseases/2406 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/611383 |
http://purl.uniprot.org/diseases/2406 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D052245 |
http://purl.uniprot.org/diseases/2406 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1568249 |
http://purl.uniprot.org/diseases/2406 | http://www.w3.org/2004/02/skos/core#prefLabel | "Usher syndrome 2D"xsd:string |
http://purl.uniprot.org/diseases/2406 | http://purl.uniprot.org/core/mnemonic | "USH2D"xsd:string |
http://purl.uniprot.org/uniprot/Q9P202#SIPC9E887751A3336CA | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/2406 |
http://purl.uniprot.org/uniprot/#_5EC401B3AC1EE5A1_up.disease_0BC7B48AE39AF116 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/2406 |