ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive nonsyndromic deafness 88
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Accession:DOID:0110533 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ELMOD3 gene on chromosome 2p11. (DO)
Synonyms:exact_synonym: DFNB88;   autosomal recessive deafness 88
 primary_id: OMIM:615429;   RDO:9000946
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autosomal recessive nonsyndromic deafness 88 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elmod3 ELMO domain containing 3 JBrowse link 4 100,422,256 100,465,152 RGD:7240710
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 88 1
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 88 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.