http://purl.uniprot.org/diseases/2064 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/2064 | http://www.w3.org/2000/01/rdf-schema#comment | "A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. In some cases AUNB1 phenotype can be temperature sensitive."xsd:string |
http://purl.uniprot.org/diseases/2064 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1010 |
http://purl.uniprot.org/diseases/2064 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/622 |
http://purl.uniprot.org/diseases/2064 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/601071 |
http://purl.uniprot.org/diseases/2064 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D006319 |
http://purl.uniprot.org/diseases/2064 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1832829 |
http://purl.uniprot.org/diseases/2064 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1832830 |
http://purl.uniprot.org/diseases/2064 | http://www.w3.org/2004/02/skos/core#prefLabel | "Auditory neuropathy, autosomal recessive, 1"xsd:string |
http://purl.uniprot.org/diseases/2064 | http://purl.uniprot.org/core/mnemonic | "AUNB1"xsd:string |
http://purl.uniprot.org/diseases/2064 | http://www.w3.org/2004/02/skos/core#altLabel | "NSRAN"xsd:string |
http://purl.uniprot.org/diseases/2064 | http://www.w3.org/2004/02/skos/core#altLabel | "Nonsyndromic auditory neuropathy autosomal recessive"xsd:string |
http://purl.uniprot.org/uniprot/Q9HC10#SIP2280A53C4085E819 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/2064 |
http://purl.uniprot.org/annotation/VAR_032229 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2064 |
http://purl.uniprot.org/annotation/VAR_032234 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2064 |
http://purl.uniprot.org/annotation/VAR_032241 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2064 |
http://purl.uniprot.org/annotation/VAR_032242 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2064 |
http://purl.uniprot.org/annotation/VAR_046003 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2064 |
http://purl.uniprot.org/annotation/VAR_046004 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2064 |
http://purl.uniprot.org/annotation/VAR_046005 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2064 |
http://purl.uniprot.org/annotation/VAR_046008 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2064 |
http://purl.uniprot.org/uniprot/#_90EB2C3B65F952D8_up.disease_9BEE35481DE5BB79 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/2064 |