http://purl.uniprot.org/diseases/5680 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/5680 | http://www.w3.org/2000/01/rdf-schema#comment | "A form of Usher syndrome, 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). USH1M is an autosomal recessive disease characterized by prelingual sensorineural hearing loss, vestibular dysfunction, night blindness, and progressive impairment of vision."xsd:string |
http://purl.uniprot.org/diseases/5680 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/682 |
http://purl.uniprot.org/diseases/5680 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/836 |
http://purl.uniprot.org/diseases/5680 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/618632 |
http://purl.uniprot.org/diseases/5680 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D052245 |
http://purl.uniprot.org/diseases/5680 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN262443 |
http://purl.uniprot.org/diseases/5680 | http://www.w3.org/2004/02/skos/core#prefLabel | "Usher syndrome 1M"xsd:string |
http://purl.uniprot.org/diseases/5680 | http://purl.uniprot.org/core/mnemonic | "USH1M"xsd:string |
http://purl.uniprot.org/uniprot/B1AK53#SIPB57BD07317486C21 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/5680 |
http://purl.uniprot.org/annotation/VAR_083335 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5680 |
http://purl.uniprot.org/uniprot/#_721EA0A93106A6B5_up.disease_19C55CB8140FE00E | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/5680 |