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ONTOLOGY REPORT - ANNOTATIONS


Term:Autosomal Recessive Nonsyndromic Deafness 113
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Accession:DOID:9000547 term browser browse the term
Definition:DFNB113 is characterized by postlingual progressive hearing impairment. DFNB113 is caused by homozygous mutation in the CEACAM16 gene (614591) on chromosome 19q13. (OMIM)
Synonyms:exact_synonym: DEAFNESS, AUTOSOMAL RECESSIVE 113;   DFNB113
 primary_id: OMIM:618410
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Autosomal Recessive Nonsyndromic Deafness 113 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:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    sensory system disease 4674
      auditory system disease 684
        inner ear disease 495
          sensorineural hearing loss 459
            autosomal recessive nonsyndromic deafness 97
              Autosomal Recessive Nonsyndromic Deafness 113 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          Otorhinolaryngologic Diseases 1075
            auditory system disease 684
              Hearing Disorders 569
                Hearing Loss 565
                  Deafness 249
                    nonsyndromic deafness 151
                      autosomal recessive nonsyndromic deafness 97
                        Autosomal Recessive Nonsyndromic Deafness 113 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.