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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:610220
ClinVar Annotator: match by term: Deafness, autosomal recessive 59		 OMIM
CTD
MouseDO
ClinVar		 PMID:16804542 PMID:17301963 PMID:17329413 PMID:17373699 PMID:17718865 More... NCBI chr 3:61,594,644...61,605,051
Ensembl chr 3:61,596,641...61,605,045 		JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 59 ClinVar NCBI chr 3:61,575,447...61,594,393
Ensembl chr 3:61,575,447...61,594,347 		JBrowse link
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 59 2
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 59 2
paths to the root