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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive nonsyndromic deafness 9
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Accession:DOID:0110535 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOF gene on chromosome 2p23. (DO)
Synonyms:exact_synonym: Auditory Neuropathy, Autosomal Recessive, 1;   DFNB9;   NRSD9;   autosomal recessive deafness 9
 narrow_synonym: AUDITORY NEUROPATHY, NONSYNDROMIC RECESSIVE;   AUNB1;   NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9;   NSRAN;   NSRD9 AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1
 primary_id: MESH:C563396;   RDO:0012662
 alt_id: OMIM:601071
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive nonsyndromic deafness 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igsf6 immunoglobulin superfamily, member 6 JBrowse link 1 190,997,029 191,007,503 RGD:8554872
G Mettl9 methyltransferase like 9 JBrowse link 1 190,962,935 191,009,926 RGD:8554872
G Otoa otoancorin JBrowse link 1 191,029,861 191,097,524 RGD:8554872
G Otof otoferlin JBrowse link 6 27,328,343 27,424,864 RGD:7240710
RGD:8554872
RGD:9479153
RGD:9479156
RGD:737640
RGD:9479157
RGD:9479161
RGD:9491386
RGD:9491826
RGD:9585724
G Rai1 retinoic acid induced 1 JBrowse link 10 46,511,271 46,571,591 RGD:8554872
G Tecta tectorin alpha JBrowse link 8 46,603,728 46,675,658 RGD:8554872

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 9 6
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 9 6
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.