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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive nonsyndromic deafness 84A
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Accession:DOID:0110529 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21. (DO)
Synonyms:exact_synonym: DEAFNESS, AUTOSOMAL RECESSIVE 84;   DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION;   DFNB84;   DFNB84A;   autosomal recessive deafness 84A
 primary_id: OMIM:613391;   RDO:0009830
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autosomal recessive nonsyndromic deafness 84A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptprq protein tyrosine phosphatase, receptor type, Q JBrowse link 7 49,763,657 50,034,932 RGD:7240710
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 84A 1
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 84A 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.