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;   DVA;   NSRD4;   autosomal recessive deafness 4;   autosomal recessive deafness 4 with enlarged vestibular aqueduct;   dilated vestibular aqueduct;   neurosensory nonsyndromic recessive deafness 4
 broad_synonym: KCNJ10-related disorder;   KCNJ10-related disorders
 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 carcinoembryonic antigen-related cell adhesion molecule 16 JBrowse link 7 19,852,097 19,871,499 RGD:8554872
G Foxi1 forkhead box I1 JBrowse link 11 34,204,341 34,208,089 RGD:7240710
RGD:8554872
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 JBrowse link 1 172,341,210 172,374,085 RGD:7240710
RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 14 34,526,699 34,590,323 RGD:8554872
G Lmna lamin A JBrowse link 3 88,481,148 88,509,932 RGD:8554872
G Slc26a4 solute carrier family 26, member 4 JBrowse link 12 31,519,814 31,560,639 RGD:7240710
RGD:8554872
RGD:7421508
RGD:7411671
RGD:7411556
RGD:7411543
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 JBrowse link 9 8,543,931 8,680,752 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11833
    sensory system disease 4041
      auditory system disease 648
        inner ear disease 458
          sensorineural hearing loss 421
            autosomal recessive nonsyndromic deafness 104
              autosomal recessive nonsyndromic deafness 4 7
Path 2
Term Annotations click to browse term
  disease 11833
    disease of anatomical entity 11289
      nervous system disease 8560
        sensory system disease 4041
          Otorhinolaryngologic Diseases 1029
            auditory system disease 648
              Hearing Disorders 534
                Hearing Loss 530
                  Deafness 264
                    nonsyndromic deafness 157
                      autosomal recessive nonsyndromic deafness 104
                        autosomal recessive nonsyndromic deafness 4 7
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.