http://purl.uniprot.org/diseases/1118 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/1118 | 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/1118 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/682 |
http://purl.uniprot.org/diseases/1118 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/836 |
http://purl.uniprot.org/diseases/1118 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/276901 |
http://purl.uniprot.org/diseases/1118 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D052245 |
http://purl.uniprot.org/diseases/1118 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1848634 |
http://purl.uniprot.org/diseases/1118 | http://www.w3.org/2004/02/skos/core#prefLabel | "Usher syndrome 2A"xsd:string |
http://purl.uniprot.org/diseases/1118 | http://purl.uniprot.org/core/mnemonic | "USH2A"xsd:string |
http://purl.uniprot.org/diseases/1118 | http://www.w3.org/2004/02/skos/core#altLabel | "USHIIa"xsd:string |
http://purl.uniprot.org/diseases/1118 | http://www.w3.org/2004/02/skos/core#altLabel | "Usher syndrome type IIA"xsd:string |
http://purl.uniprot.org/diseases/1118 | http://www.w3.org/2004/02/skos/core#altLabel | "Usher syndrome type IIa"xsd:string |
http://purl.uniprot.org/diseases/1118 | http://www.w3.org/2004/02/skos/core#altLabel | "Usher's syndrome type 2A"xsd:string |
http://purl.uniprot.org/uniprot/Q9H5P4#SIP79613985B67C64EC | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/1118 |
http://purl.uniprot.org/uniprot/O75445#SIPC0BA66FB6BE41D76 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/1118 |
http://purl.uniprot.org/annotation/VAR_025761 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1118 |
http://purl.uniprot.org/annotation/VAR_025762 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1118 |
http://purl.uniprot.org/annotation/VAR_025763 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1118 |
http://purl.uniprot.org/annotation/VAR_025764 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1118 |
http://purl.uniprot.org/annotation/VAR_025765 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1118 |
http://purl.uniprot.org/annotation/VAR_025766 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1118 |
http://purl.uniprot.org/annotation/VAR_025767 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1118 |
http://purl.uniprot.org/annotation/VAR_025768 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1118 |
http://purl.uniprot.org/annotation/VAR_025769 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1118 |
http://purl.uniprot.org/annotation/VAR_025770 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1118 |