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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 61
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Accession:DOID:0110513 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 SLC26A5 gene on chromosome 7q22. (DO)
Synonyms:exact_synonym: DFNB61;   autosomal recessive deafness 61
 primary_id: OMIM:613865


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autosomal recessive nonsyndromic deafness 61 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a5 solute carrier family 26 member 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 61 OMIM
ClinVar
PMID:12719379 PMID:16086836 PMID:24033266 PMID:24164807 PMID:25262649 More... NCBI chrNW_004936479:20,104,625...20,145,392
Ensembl chrNW_004936479:20,104,595...20,144,601
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6272
      Hearing Disorders 728
        Hearing Loss 723
          sensorineural hearing loss 545
            autosomal recessive nonsyndromic deafness 127
              autosomal recessive nonsyndromic deafness 61 1
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11257
      Signs and Symptoms 9333
        Neurologic Manifestations 9024
          sensory system disease 6272
            Otorhinolaryngologic Diseases 1580
              auditory system disease 893
                Hearing Disorders 728
                  Hearing Loss 723
                    Deafness 348
                      nonsyndromic deafness 202
                        autosomal recessive nonsyndromic deafness 127
                          autosomal recessive nonsyndromic deafness 61 1
paths to the root