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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 12
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Accession:DOID:0110544 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: DFNA12;   DFNA8;   autosomal dominant deafness 12;   autosomal dominant deafness 8;   autosomal dominant deafness 8/12
 broad_synonym: TECTA-RELATED CONDITION
 primary_id: MESH:C563295
 alt_id: MIM:601543



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    sensory system disease 7183
      Hearing Disorders 827
        Hearing Loss 822
          sensorineural hearing loss 632
            autosomal dominant nonsyndromic deafness 79
              autosomal dominant nonsyndromic deafness 12 1
Path 2
Term Annotations click to browse term
  disease 19076
    Pathological Conditions, Signs and Symptoms 13489
      Signs and Symptoms 11037
        Neurologic Manifestations 10284
          sensory system disease 7183
            Otorhinolaryngologic Diseases 1782
              auditory system disease 1039
                Hearing Disorders 827
                  Hearing Loss 822
                    Deafness 373
                      nonsyndromic deafness 214
                        autosomal dominant nonsyndromic deafness 79
                          autosomal dominant nonsyndromic deafness 12 1
paths to the root