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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 9
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Accession:DOID:0110593 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12. (DO)
Synonyms:exact_synonym: DFNA9;   autosomal dominant deafness 9
 primary_id: MESH:C563335
 alt_id: MIM:601369


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15606
    sensory system disease 6685
      Hearing Disorders 775
        Hearing Loss 770
          sensorineural hearing loss 586
            autosomal dominant nonsyndromic deafness 80
              autosomal dominant nonsyndromic deafness 9 1
Path 2
Term Annotations click to browse term
  disease 15606
    Pathological Conditions, Signs and Symptoms 12072
      Signs and Symptoms 9964
        Neurologic Manifestations 9644
          sensory system disease 6685
            Otorhinolaryngologic Diseases 1679
              auditory system disease 952
                Hearing Disorders 775
                  Hearing Loss 770
                    Deafness 370
                      nonsyndromic deafness 216
                        autosomal dominant nonsyndromic deafness 80
                          autosomal dominant nonsyndromic deafness 9 1
paths to the root