ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant nonsyndromic deafness 2B
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Accession:DOID:0110559 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3. (DO)
Synonyms:exact_synonym: DFNA2B;   autosomal dominant deafness 2B
 primary_id: MESH:C567214;   RDO:0015353
 alt_id: OMIM:612644
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autosomal dominant nonsyndromic deafness 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:7240710
RGD:8554872

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 dominant nonsyndromic deafness 51
              autosomal dominant nonsyndromic deafness 2B 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 dominant nonsyndromic deafness 51
                        autosomal dominant nonsyndromic deafness 2B 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.