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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 34
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Accession:DOID:0080270 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. (DO)
Synonyms:exact_synonym: DFNA34;   autosomal dominant deafness 34 with or without inflammation
 primary_id: MIM:617772


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    sensory system disease 7348
      Hearing Disorders 858
        Hearing Loss 853
          sensorineural hearing loss 653
            autosomal dominant nonsyndromic deafness 77
              autosomal dominant nonsyndromic deafness 34 1
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            Otorhinolaryngologic Diseases 1809
              auditory system disease 1073
                Hearing Disorders 858
                  Hearing Loss 853
                    Deafness 392
                      nonsyndromic deafness 224
                        autosomal dominant nonsyndromic deafness 77
                          autosomal dominant nonsyndromic deafness 34 1
paths to the root