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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: MIM:616044;   RDO:9002446



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7029
      Hearing Disorders 818
        Hearing Loss 813
          Deafness 373
            autosomal dominant nonsyndromic deafness 65 2
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13381
      Signs and Symptoms 10871
        Neurologic Manifestations 10108
          sensory system disease 7029
            Otorhinolaryngologic Diseases 1738
              auditory system disease 992
                Hearing Disorders 818
                  Hearing Loss 813
                    Deafness 373
                      nonsyndromic deafness 214
                        autosomal dominant nonsyndromic deafness 79
                          autosomal dominant nonsyndromic deafness 65 2
paths to the root