http://purl.uniprot.org/diseases/1112 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/1112 | 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/1112 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/682 |
http://purl.uniprot.org/diseases/1112 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/836 |
http://purl.uniprot.org/diseases/1112 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/276900 |
http://purl.uniprot.org/diseases/1112 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D052245 |
http://purl.uniprot.org/diseases/1112 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1568247 |
http://purl.uniprot.org/diseases/1112 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1848638 |
http://purl.uniprot.org/diseases/1112 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1848639 |
http://purl.uniprot.org/diseases/1112 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1848640 |
http://purl.uniprot.org/diseases/1112 | http://www.w3.org/2004/02/skos/core#prefLabel | "Usher syndrome 1B"xsd:string |
http://purl.uniprot.org/diseases/1112 | http://purl.uniprot.org/core/mnemonic | "USH1B"xsd:string |
http://purl.uniprot.org/diseases/1112 | http://www.w3.org/2004/02/skos/core#altLabel | "USHIb"xsd:string |
http://purl.uniprot.org/diseases/1112 | http://www.w3.org/2004/02/skos/core#altLabel | "Usher syndrome type IB"xsd:string |
http://purl.uniprot.org/diseases/1112 | http://www.w3.org/2004/02/skos/core#altLabel | "Usher syndrome type Ib"xsd:string |
http://purl.uniprot.org/diseases/1112 | http://www.w3.org/2004/02/skos/core#altLabel | "Usher's syndrome type 1B"xsd:string |
http://purl.uniprot.org/uniprot/Q13402#SIPA77532F4EA3C1BD4 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/1112 |
http://purl.uniprot.org/annotation/VAR_009316 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1112 |
http://purl.uniprot.org/annotation/VAR_009318 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1112 |
http://purl.uniprot.org/annotation/VAR_009319 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1112 |
http://purl.uniprot.org/annotation/VAR_009320 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1112 |
http://purl.uniprot.org/annotation/VAR_009321 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1112 |
http://purl.uniprot.org/annotation/VAR_009322 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1112 |
http://purl.uniprot.org/annotation/VAR_009325 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1112 |
http://purl.uniprot.org/annotation/VAR_009326 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1112 |