ONTOLOGY REPORT - ANNOTATIONS


Term:DEAFNESS, AUTOSOMAL RECESSIVE 57
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Accession:DOID:9001963 term browser browse the term
Definition:Deafness characterized by symmetric bilateral moderate to severe hearing loss, represented by gently downward-sloping audiograms. (OMIM)
Synonyms:exact_synonym: DFNB57;   autosomal recessive deafness-57
 primary_id: OMIM:618003
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DEAFNESS, AUTOSOMAL RECESSIVE 57 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdzd7 PDZ domain containing 7 JBrowse link 1 264,776,393 264,796,206 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    sensory system disease 4265
      auditory system disease 667
        inner ear disease 473
          sensorineural hearing loss 437
            autosomal recessive nonsyndromic deafness 102
              DEAFNESS, AUTOSOMAL RECESSIVE 57 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        sensory system disease 4265
          Otorhinolaryngologic Diseases 1042
            auditory system disease 667
              Hearing Disorders 553
                Hearing Loss 549
                  Deafness 261
                    nonsyndromic deafness 156
                      autosomal recessive nonsyndromic deafness 102
                        DEAFNESS, AUTOSOMAL RECESSIVE 57 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.