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ONTOLOGY REPORT - ANNOTATIONS


Term:Usher syndrome
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Accession:DOID:0050439 term browser browse the term
Definition:Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.
Synonyms:exact_synonym: Graefe Usher syndrome;   Hallgren syndrome;   Usher syndromes;   Usher's syndrome;   Ushers syndrome;   dystrophia retinae pigmentosa dysostosis syndrome;   retinitis pigmentosa and congenital deafness
 primary_id: MESH:D052245
 alt_id: RDO:0002086
 xref: NCI:C85217;   OMIM:PS276900;   ORDO:886
For additional species annotation, visit the Alliance of Genome Resources.


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Usher 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 Bbs1 Bardet-Biedl syndrome 1 JBrowse link 1 220,146,084 220,165,545 RGD:8554872
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 JBrowse link 13 103,268,045 103,292,848 RGD:8554872
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8547536
RGD:8554872
G Clrn1 clarin 1 JBrowse link 2 149,049,925 149,088,787 RGD:8547535
G Dusp10 dual specificity phosphatase 10 JBrowse link 13 104,284,660 104,321,455 RGD:8554872
G Eprs glutamyl-prolyl-tRNA synthetase JBrowse link 13 103,300,911 103,371,651 RGD:8554872
G Esrrg estrogen-related receptor gamma JBrowse link 13 106,063,799 106,683,353 RGD:8554872
G Gpatch2 G patch domain containing 2 JBrowse link 13 105,684,300 105,824,405 RGD:8554872
G Guca1a guanylate cyclase activator 1A JBrowse link 9 15,609,804 15,620,030 RGD:8554872
G Hars1 histidyl-tRNA synthetase 1 JBrowse link 18 29,611,545 29,629,087 RGD:8554872
G Hhipl2 HHIP like 2 JBrowse link 13 101,814,574 101,835,144 RGD:8554872
G Hlx H2.0-like homeobox JBrowse link 13 102,637,967 102,643,376 RGD:8554872
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 13 103,229,868 103,265,019 RGD:8554872
G LOC100361018 rCG22048-like JBrowse link 20 29,947,427 29,954,869 RGD:8554872
G Lyplal1 lysophospholipase-like 1 JBrowse link 13 104,049,263 104,080,680 RGD:8554872
G Mark1 microtubule affinity regulating kinase 1 JBrowse link 13 102,808,254 102,942,863 RGD:8554872
G Mir194-1 microRNA 194-1 JBrowse link 13 103,250,576 103,250,658 RGD:8554872
G Mtarc1 mitochondrial amidoxime reducing component 1 JBrowse link 13 102,693,679 102,724,120 RGD:8554872
G Mtarc2 mitochondrial amidoxime reducing component 2 JBrowse link 13 102,724,266 102,755,511 RGD:8554872
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:8547536
RGD:8554872
RGD:11554173
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8547536
RGD:8554872
RGD:11554173
G Prom1 prominin 1 JBrowse link 14 71,532,321 71,637,400 RGD:8554872
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 13 103,157,806 103,229,010 RGD:8554872
G RGD1310587 similar to hypothetical protein FLJ14146 JBrowse link 13 102,780,885 102,790,621 RGD:8554872
G Rrp15 ribosomal RNA processing 15 homolog JBrowse link 13 105,155,824 105,178,907 RGD:8554872
G Slc30a10 solute carrier family 30, member 10 JBrowse link 13 103,396,295 103,406,759 RGD:8554872
G Spata17 spermatogenesis associated 17 JBrowse link 13 105,489,121 105,684,293 RGD:8554872
G Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A JBrowse link 13 101,770,278 101,807,975 RGD:8554872
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:8554872
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:8547536
RGD:8554872
RGD:8695937
RGD:8695939
RGD:8694458
RGD:8694457
G Ush1g USH1 protein network component sans JBrowse link 10 103,866,566 103,873,416 RGD:8547536
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8547535
RGD:8554872
RGD:8547956
G Zdhhc24 zinc finger, DHHC-type containing 24 JBrowse link 1 220,137,280 220,143,387 RGD:8554872
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 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 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 Whrn whirlin JBrowse link 5 79,235,541 79,317,206 RGD:8554872
Usher syndrome type 1 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 Cib2 calcium and integrin binding family member 2 JBrowse link 8 59,123,078 59,139,946 RGD:8554872
G Espn espin JBrowse link 5 169,293,356 169,331,338 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:8694152
RGD:8554872
RGD:13592920
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 Prdm16 PR/SET domain 16 JBrowse link 5 171,662,277 171,711,561 RGD:8554872
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:8695918
RGD:8554872
RGD:13592920
RGD:8695921
RGD:8695919
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
Usher Syndrome Type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:7240710
RGD:8554872
RGD:8694135
RGD:8694137
RGD:8694151
RGD:1581470
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:11554173
Usher syndrome type 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:7240710
RGD:8554872
RGD:11554173
RGD:1600453
Usher syndrome type 1D 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:7240710
RGD:8554872
RGD:8662279
G LOC100361018 rCG22048-like JBrowse link 20 29,947,427 29,954,869 RGD:8554872
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:7240710
RGD:8554872
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:8554872
Usher syndrome type 1F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:7240710
RGD:8554872
Usher syndrome type 1G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
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 Ush1g USH1 protein network component sans JBrowse link 10 103,866,566 103,873,416 RGD:7240710
RGD:8554872
Usher syndrome type 1J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cib2 calcium and integrin binding family member 2 JBrowse link 8 59,123,078 59,139,946 RGD:7240710
RGD:11554173
RGD:8554872
Usher syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8547952
RGD:8554872
RGD:8694137
RGD:8547985
RGD:8547965
RGD:8547962
Usher syndrome type 2A 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 Kctd3 potassium channel tetramerization domain containing 3 JBrowse link 13 107,433,588 107,471,843 RGD:8554872
G Pdzd7 PDZ domain containing 7 JBrowse link 1 264,776,393 264,796,206 RGD:7240710
RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8547987
RGD:8547961
Usher syndrome type 2C 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:7240710
RGD:8554872
G Pdzd7 PDZ domain containing 7 JBrowse link 1 264,776,393 264,796,206 RGD:7240710
RGD:8554872
G Slc4a7 solute carrier family 4 member 7 JBrowse link 15 11,832,611 11,912,923 RGD:13592920
Usher syndrome type 2D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Whrn whirlin JBrowse link 5 79,235,541 79,317,206 RGD:7240710
RGD:8554872
Usher syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clrn1 clarin 1 JBrowse link 2 149,049,925 149,088,787 RGD:8554872
Usher syndrome type 3A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clrn1 clarin 1 JBrowse link 2 149,049,925 149,088,787 RGD:634439
RGD:8554872
RGD:7240710
Usher syndrome type 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hars1 histidyl-tRNA synthetase 1 JBrowse link 18 29,611,545 29,629,087 RGD:7240710
RGD:8554872
Usher Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arsg arylsulfatase G JBrowse link 10 97,722,550 97,859,975 RGD:8554872
RGD:7240710
Usher Syndrome, Type ID/F 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 Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Usher syndrome 45
        Usher Syndrome Type 4 1
        Usher syndrome type 1 + 13
        Usher syndrome type 2 + 7
        Usher syndrome type 3 + 2
        retinitis pigmentosa-deafness syndrome 14
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          Otorhinolaryngologic Diseases 1075
            auditory system disease 684
              Hearing Disorders 569
                Hearing Loss 565
                  Deafness 249
                    Deaf-Blind Disorders 52
                      Usher syndrome 45
                        Usher Syndrome Type 4 1
                        Usher syndrome type 1 + 13
                        Usher syndrome type 2 + 7
                        Usher syndrome type 3 + 2
                        retinitis pigmentosa-deafness syndrome 14
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.