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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive nonsyndromic deafness 4
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Accession:DOID:0110498 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22. (DO)
Synonyms:exact_synonym: DFNB4;   ENLARGED VESTIBULAR AQUEDUCT SYNDROME;   NSRD4;   autosomal recessive deafness 4;   neurosensory nonsyndromic recessive deafness 4
 narrow_synonym: DVA;   autosomal recessive deafness 4 with enlarged vestibular aqueduct;   dilated vestibular aqueduct
 broad_synonym: KCNJ10-related disorder;   KCNJ10-related disorders;   SLC26A4-RELATED DISORDER
 primary_id: MESH:C566366
 alt_id: OMIM:600791;   RDO:0008773;   RDO:0014740
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autosomal recessive nonsyndromic deafness 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component JBrowse link 1 80,773,819 80,783,898 RGD:8554872
G Foxi1 forkhead box I1 JBrowse link 10 19,160,566 19,164,505 RGD:7240710
RGD:8554872
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 JBrowse link 13 90,722,945 90,753,338 RGD:7240710
RGD:8554872
G Slc26a4 solute carrier family 26 member 4 JBrowse link 6 50,809,103 50,848,443 RGD:7240710
RGD:8554872
RGD:7421508
RGD:7411671
RGD:7411556
RGD:7411543

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 4 4
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 4 4
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.