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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 59
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Accession:DOID:0110511 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 DFNB59 gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: DFNB59;   autosomal recessive deafness 59
 primary_id: MESH:C565698
 alt_id: OMIM:610220

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autosomal recessive nonsyndromic deafness 59 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 59 OMIM
ClinVar		 PMID:16804542 PMID:17301963 PMID:17329413 PMID:17373699 PMID:17718865 More... NCBI chrNW_004955403:18,386,705...18,393,771
Ensembl chrNW_004955403:18,386,705...18,393,771 		JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 59 ClinVar NCBI chrNW_004955403:18,394,609...18,410,381
Ensembl chrNW_004955403:18,373,375...18,410,627 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6160
      Hearing Disorders 726
        Hearing Loss 721
          sensorineural hearing loss 541
            autosomal recessive nonsyndromic deafness 131
              autosomal recessive nonsyndromic deafness 59 2
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6160
            Otorhinolaryngologic Diseases 1561
              auditory system disease 890
                Hearing Disorders 726
                  Hearing Loss 721
                    Deafness 348
                      nonsyndromic deafness 201
                        autosomal recessive nonsyndromic deafness 131
                          autosomal recessive nonsyndromic deafness 59 2
paths to the root