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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 15342
    sensory system disease 6809
      Hearing Disorders 774
        Hearing Loss 768
          sensorineural hearing loss 584
            autosomal dominant nonsyndromic deafness 80
              autosomal dominant nonsyndromic deafness 43 0
Path 2
Term Annotations click to browse term
  disease 15342
    Pathological Conditions, Signs and Symptoms 11970
      Signs and Symptoms 10013
        Neurologic Manifestations 9708
          sensory system disease 6809
            Otorhinolaryngologic Diseases 1693
              auditory system disease 985
                Hearing Disorders 774
                  Hearing Loss 768
                    Deafness 367
                      nonsyndromic deafness 212
                        autosomal dominant nonsyndromic deafness 80
                          autosomal dominant nonsyndromic deafness 43 0
paths to the root