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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 5
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Accession:DOID:0110507 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q12. (DO)
Synonyms:exact_synonym: DFNB5;   NSRD5;   autosomal recessive deafness 5;   neurosensory nonsyndromic recessive deafness 5
 primary_id: MESH:C563444
 alt_id: OMIM:600792


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    sensory system disease 7035
      Hearing Disorders 821
        Hearing Loss 816
          sensorineural hearing loss 627
            autosomal recessive nonsyndromic deafness 143
              autosomal recessive nonsyndromic deafness 5 0
Path 2
Term Annotations click to browse term
  disease 18970
    Pathological Conditions, Signs and Symptoms 13384
      Signs and Symptoms 10875
        Neurologic Manifestations 10113
          sensory system disease 7035
            Otorhinolaryngologic Diseases 1741
              auditory system disease 995
                Hearing Disorders 821
                  Hearing Loss 816
                    Deafness 376
                      nonsyndromic deafness 217
                        autosomal recessive nonsyndromic deafness 143
                          autosomal recessive nonsyndromic deafness 5 0
paths to the root