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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 43
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Accession:DOID:0110568 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12. (DO)
Synonyms:exact_synonym: DFNA43;   autosomal dominant deafness 43
 primary_id: MESH:C564246;   RDO:0013272
 alt_id: MIM:608394


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16177
    sensory system disease 7055
      Hearing Disorders 834
        Hearing Loss 828
          sensorineural hearing loss 637
            autosomal dominant nonsyndromic deafness 83
              autosomal dominant nonsyndromic deafness 43 0
Path 2
Term Annotations click to browse term
  disease 16177
    Pathological Conditions, Signs and Symptoms 12549
      Signs and Symptoms 10406
        Neurologic Manifestations 10079
          sensory system disease 7055
            Otorhinolaryngologic Diseases 1787
              auditory system disease 1047
                Hearing Disorders 834
                  Hearing Loss 828
                    Deafness 392
                      nonsyndromic deafness 228
                        autosomal dominant nonsyndromic deafness 83
                          autosomal dominant nonsyndromic deafness 43 0
paths to the root