Term:retinitis pigmentosa-deafness syndrome
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Accession:DOID:0110829 term browser browse the term
Definition:An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome.
Synonyms:exact_synonym: RETINITIS PIGMENTOSA 21;   RETINITIS PIGMENTOSA 8;   RP21;   RP8
 primary_id: OMIM:500004
 alt_id: RDO:9002294
 xref: GARD:4684;   ORDO:231183
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retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:8554872
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Clrn1 clarin 1 JBrowse link 2 149,049,925 149,088,787 RGD:8554872
G Hars histidyl-tRNA synthetase JBrowse link 18 29,611,545 29,629,087 RGD:8554872
G Hars2 histidyl-tRNA synthetase 2, mitochondrial JBrowse link 18 29,629,203 29,638,460 RGD:8554872
G LOC100361018 rCG22048-like JBrowse link 20 29,947,427 29,954,869 RGD:8554872
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:8554872
G Otop2 otopetrin 2 JBrowse link 10 103,874,383 103,883,953 RGD:8554872
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8554872
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:8554872
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:8554872
G Ush1g USH1 protein network component sans JBrowse link 10 103,866,566 103,873,416 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
G Wdr55 WD repeat domain 55 JBrowse link 18 29,605,217 29,608,730 RGD:8554872
G Whrn whirlin JBrowse link 5 79,235,541 79,317,206 RGD:8554872

Term paths to the root
Path 1
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  disease 14875
    syndrome 4220
      retinitis pigmentosa-deafness syndrome 15
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          Otorhinolaryngologic Diseases 1038
            auditory system disease 662
              Hearing Disorders 551
                Hearing Loss 547
                  Deafness 261
                    Deaf-Blind Disorders 54
                      Usher syndrome 46
                        retinitis pigmentosa-deafness syndrome 15
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.