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ONTOLOGY REPORT - ANNOTATIONS


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
 related_synonym: CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS
 primary_id: OMIM:500004
 alt_id: RDO:9002294
 xref: GARD:4684;   NCI:C126329;   ORDO:231183
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Hars1 histidyl-tRNA synthetase 1 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 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 Vsir V-set immunoregulatory receptor JBrowse link 20 29,897,543 29,923,381 RGD:8554872
G Whrn whirlin JBrowse link 5 79,235,541 79,317,206 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    syndrome 6141
      Usher syndrome 46
        retinitis pigmentosa-deafness syndrome 12
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      nervous system disease 10762
        sensory system disease 4971
          Otorhinolaryngologic Diseases 1123
            auditory system disease 717
              Hearing Disorders 581
                Hearing Loss 577
                  Deafness 267
                    Deaf-Blind Disorders 54
                      Usher syndrome 46
                        retinitis pigmentosa-deafness syndrome 12
paths to the root

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