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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 79
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Accession:DOID:0110526 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TPRN gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: DFNB79;   autosomal recessive deafness 79
 primary_id: MESH:C567651;   RDO:0015667
 alt_id: OMIM:613307


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autosomal recessive nonsyndromic deafness 79 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tprn taperin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 79 OMIM
ClinVar		 PMID:20170898 PMID:20170899 PMID:24033266 PMID:25741868 PMID:26969326 More... NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    sensory system disease 6836
      Hearing Disorders 776
        Hearing Loss 773
          sensorineural hearing loss 588
            autosomal recessive nonsyndromic deafness 126
              autosomal recessive nonsyndromic deafness 79 1
Path 2
Term Annotations click to browse term
  disease 21089
    Pathological Conditions, Signs and Symptoms 13265
      Signs and Symptoms 10704
        Neurologic Manifestations 9941
          sensory system disease 6836
            Otorhinolaryngologic Diseases 1778
              auditory system disease 1041
                Hearing Disorders 776
                  Hearing Loss 773
                    Deafness 346
                      nonsyndromic deafness 206
                        autosomal recessive nonsyndromic deafness 126
                          autosomal recessive nonsyndromic deafness 79 1
paths to the root