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ONTOLOGY REPORT - ANNOTATIONS


Term:Autosomal Recessive Nonsyndromic Deafness 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. DFNB57 is caused by homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24. (OMIM)
Synonyms:exact_synonym: DEAFNESS, AUTOSOMAL RECESSIVE 57;   DFNB57;   autosomal recessive deafness-57
 primary_id: OMIM:618003
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Autosomal Recessive Nonsyndromic Deafness 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 15590
    sensory system disease 4659
      auditory system disease 685
        inner ear disease 494
          sensorineural hearing loss 458
            autosomal recessive nonsyndromic deafness 96
              Autosomal Recessive Nonsyndromic Deafness 57 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        sensory system disease 4659
          Otorhinolaryngologic Diseases 1076
            auditory system disease 685
              Hearing Disorders 570
                Hearing Loss 566
                  Deafness 249
                    nonsyndromic deafness 150
                      autosomal recessive nonsyndromic deafness 96
                        Autosomal Recessive Nonsyndromic Deafness 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.