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ONTOLOGY REPORT - ANNOTATIONS


Term:Progressive Hearing Loss Stapes Fixation
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Accession:DOID:9001507 term browser browse the term
Synonyms:exact_synonym: DFN3;   DFNX2;   Deafness 3, conductive, with stapes fixation;   Deafness, Conductive, with Stapes Fixation;   Deafness, X-Linked 2;   Deafness, mixed, with perilymphatic gusher;   Nance deafness;   Perilymphatic gusher-deafness syndrome;   Sensorineural Deafness, Profound, with or without a Conductive Component, Associated with a Unique Developmental Abnormality of the Ear;   Sensorineural deafness, profound, with or without a conductive component
 primary_id: MESH:C536424;   RDO:0002019
 alt_id: OMIM:304400
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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 14924
    sensory system disease 4249
      auditory system disease 643
        inner ear disease 453
          sensorineural hearing loss 417
            Progressive Hearing Loss Stapes Fixation 3
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        sensory system disease 4249
          Otorhinolaryngologic Diseases 1019
            auditory system disease 643
              Hearing Disorders 529
                Hearing Loss 525
                  Deafness 236
                    nonsyndromic deafness 138
                      X-linked nonsyndromic deafness 8
                        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.