ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive nonsyndromic deafness 12
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Accession:DOID:0110467 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22. (DO)
Synonyms:exact_synonym: DFNB12;   autosomal recessive deafness 12
 primary_id: MESH:C563327;   RDO:0012617
 alt_id: OMIM:601386
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autosomal recessive nonsyndromic deafness 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 JBrowse link 4 145,704,779 145,948,997 RGD:7240710
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:7240710
RGD:8554872
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:8554872
G LOC100361018 rCG22048-like JBrowse link 20 29,947,427 29,954,869 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 recessive nonsyndromic deafness 102
              autosomal recessive nonsyndromic deafness 12 4
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
                        autosomal recessive nonsyndromic deafness 12 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.