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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 Tmem203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 79 ClinVar PMID:25741868 NCBI chrNW_004936669:782,494...783,708
Ensembl chrNW_004936669:782,509...782,919 		JBrowse link
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 chrNW_004936669:786,569...794,713
Ensembl chrNW_004936669:786,808...794,155 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6279
      Hearing Disorders 732
        Hearing Loss 727
          sensorineural hearing loss 548
            autosomal recessive nonsyndromic deafness 135
              autosomal recessive nonsyndromic deafness 79 2
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          sensory system disease 6279
            Otorhinolaryngologic Diseases 1589
              auditory system disease 897
                Hearing Disorders 732
                  Hearing Loss 727
                    Deafness 355
                      nonsyndromic deafness 207
                        autosomal recessive nonsyndromic deafness 135
                          autosomal recessive nonsyndromic deafness 79 2
paths to the root