ONTOLOGY REPORT - ANNOTATIONS


Term:X-linked nonsyndromic deafness
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Accession:DOID:0050566 term browser browse the term
Definition:A nonsyndromic deafness characterized by an X-linked inheritance mode. (DO)
Synonyms:exact_synonym: X-linked deafness
 primary_id: RDO:9004904
 xref: OMIM:PS304500;   ORDO:90625
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X-linked nonsyndromic deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:13592920
G Smpx small muscle protein, X-linked JBrowse link X 40,029,200 40,086,870 RGD:8554872
Deafness, X-Linked 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:11061884
RGD:8554872
Deafness, X-Linked 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smpx small muscle protein, X-linked JBrowse link X 40,029,200 40,086,870 RGD:7240710
RGD:8554872
Deafness, X-Linked 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:8554872
RGD:7240710
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
Deafness, X-Linked 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a6 collagen type IV alpha 6 chain JBrowse link X 112,405,647 112,768,337 RGD:7240710
RGD:8554872
Progressive Hearing Loss Stapes Fixation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:11554173
RGD:8554872
G Gjb6 gap junction protein, beta 6 JBrowse link 15 37,400,888 37,411,656 RGD:11554173
RGD:8554872
G Pou3f4 POU class 3 homeobox 4 JBrowse link X 82,143,789 82,145,066 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    sensory system disease 4267
      auditory system disease 667
        inner ear disease 474
          sensorineural hearing loss 438
            X-linked nonsyndromic deafness 8
              Deafness, X-Linked 1 1
              Deafness, X-Linked 3 0
              Deafness, X-Linked 4 1
              Deafness, X-Linked 5 2
              Deafness, X-Linked 6 1
              Progressive Hearing Loss Stapes Fixation 3
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        sensory system disease 4267
          Otorhinolaryngologic Diseases 1042
            auditory system disease 667
              Hearing Disorders 553
                Hearing Loss 549
                  Deafness 261
                    nonsyndromic deafness 156
                      X-linked nonsyndromic deafness 8
                        Deafness, X-Linked 1 1
                        Deafness, X-Linked 3 0
                        Deafness, X-Linked 4 1
                        Deafness, X-Linked 5 2
                        Deafness, X-Linked 6 1
                        Progressive Hearing Loss Stapes Fixation 3
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.