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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 20
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Accession:DOID:0110550 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: DFNA20;   DFNA26;   Deafness, autosomal dominant 20/26;   autosomal dominant deafness 20
 broad_synonym: ACTG1-RELATED CONDITION;   ACTG1-RELATED DISORDER
 primary_id: MESH:C565754
 alt_id: OMIM:604717


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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
          sensorineural hearing loss 619
            autosomal dominant nonsyndromic deafness 80
              autosomal dominant nonsyndromic deafness 20 1
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 20 1
paths to the root