ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive nonsyndromic deafness 36
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Accession:DOID:0110494 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: DFNB36;   autosomal recessive deafness 36;   autosomal recessive deafness 36, with or without vestibular involvement;   autosomal recessive deafness 36, without vestibular involvement
 related_synonym: DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT
 primary_id: MESH:C563815
 alt_id: MESH:C567219;   OMIM:609006;   RDO:0009268;   RDO:0012978;   RDO:0015358
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autosomal recessive nonsyndromic deafness 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Espn espin JBrowse link 5 169,293,356 169,331,338 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14919
    sensory system disease 4264
      auditory system disease 667
        inner ear disease 473
          sensorineural hearing loss 437
            autosomal recessive nonsyndromic deafness 102
              autosomal recessive nonsyndromic deafness 36 1
Path 2
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      nervous system disease 9147
        sensory system disease 4264
          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 36 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.