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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:autosomal dominant nonsyndromic deafness 2B
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Accession:DOID:0110559 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3. (DO)
Synonyms:exact_synonym: DFNA2B;   autosomal dominant deafness 2B
 primary_id: MESH:C567214
 alt_id: OMIM:612644


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autosomal dominant nonsyndromic deafness 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 2b ClinVar PMID:9843210 PMID:16077902 PMID:19050930 PMID:21204020 PMID:23638949 More... NCBI chr15:7,175,010...7,177,145 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    sensory system disease 6587
      Hearing Disorders 772
        Hearing Loss 767
          sensorineural hearing loss 582
            autosomal dominant nonsyndromic deafness 80
              autosomal dominant nonsyndromic deafness 2B 1
Path 2
Term Annotations click to browse term
  disease 17774
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6587
            Otorhinolaryngologic Diseases 1672
              auditory system disease 948
                Hearing Disorders 772
                  Hearing Loss 767
                    Deafness 367
                      nonsyndromic deafness 215
                        autosomal dominant nonsyndromic deafness 80
                          autosomal dominant nonsyndromic deafness 2B 1
paths to the root