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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 recessive nonsyndromic deafness 85
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Accession:DOID:0110531 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 17p12-q11.2. (DO)
Synonyms:exact_synonym: DFNB85;   autosomal recessive deafness 85
 primary_id: MIM:613392;   RDO:0009831


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15279
    sensory system disease 6601
      Hearing Disorders 771
        Hearing Loss 766
          sensorineural hearing loss 582
            autosomal recessive nonsyndromic deafness 138
              autosomal recessive nonsyndromic deafness 85 0
Path 2
Term Annotations click to browse term
  disease 15279
    Pathological Conditions, Signs and Symptoms 11850
      Signs and Symptoms 9805
        Neurologic Manifestations 9491
          sensory system disease 6601
            Otorhinolaryngologic Diseases 1665
              auditory system disease 944
                Hearing Disorders 771
                  Hearing Loss 766
                    Deafness 370
                      nonsyndromic deafness 214
                        autosomal recessive nonsyndromic deafness 138
                          autosomal recessive nonsyndromic deafness 85 0
paths to the root