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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 65
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Accession:DOID:0110586 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. (DO)
Synonyms:related_synonym: DFNA65;   autosomal dominant deafness 65
 primary_id: OMIM:616044;   RDO:9002446


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    sensory system disease 6747
      Hearing Disorders 815
        Hearing Loss 810
          Deafness 384
            autosomal dominant nonsyndromic deafness 65 2
Path 2
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Signs and Symptoms 10135
        Neurologic Manifestations 9790
          sensory system disease 6747
            Otorhinolaryngologic Diseases 1733
              auditory system disease 988
                Hearing Disorders 815
                  Hearing Loss 810
                    Deafness 384
                      nonsyndromic deafness 221
                        autosomal dominant nonsyndromic deafness 80
                          autosomal dominant nonsyndromic deafness 65 2
paths to the root