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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 16109
    sensory system disease 6768
      Hearing Disorders 816
        Hearing Loss 811
          sensorineural hearing loss 620
            autosomal dominant nonsyndromic deafness 80
              autosomal dominant nonsyndromic deafness 20 1
Path 2
Term Annotations click to browse term
  disease 16109
    Pathological Conditions, Signs and Symptoms 12370
      Signs and Symptoms 10145
        Neurologic Manifestations 9802
          sensory system disease 6768
            Otorhinolaryngologic Diseases 1737
              auditory system disease 989
                Hearing Disorders 816
                  Hearing Loss 811
                    Deafness 384
                      nonsyndromic deafness 221
                        autosomal dominant nonsyndromic deafness 80
                          autosomal dominant nonsyndromic deafness 20 1
paths to the root