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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 52
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Accession:DOID:0110578 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.1-q32. (DO)
Synonyms:exact_synonym: DEAFNESS, AUTOSOMAL DOMINANT 42;   DFNA42;   DFNA52;   autosomal dominant deafness 52
 primary_id: MESH:C564348;   RDO:0013346
 alt_id: OMIM:607683


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6272
      Hearing Disorders 728
        Hearing Loss 723
          sensorineural hearing loss 545
            autosomal dominant nonsyndromic deafness 79
              autosomal dominant nonsyndromic deafness 52 0
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11257
      Signs and Symptoms 9333
        Neurologic Manifestations 9024
          sensory system disease 6272
            Otorhinolaryngologic Diseases 1580
              auditory system disease 893
                Hearing Disorders 728
                  Hearing Loss 723
                    Deafness 348
                      nonsyndromic deafness 202
                        autosomal dominant nonsyndromic deafness 79
                          autosomal dominant nonsyndromic deafness 52 0
paths to the root