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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 89
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Accession:DOID:0110534 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the KARS gene on chromosome 16q23. (DO)
Synonyms:exact_synonym: DEAFNESS, AUTOSOMAL RECESSIVE 89;   DFNB89
 primary_id: OMIM:613916
 alt_id: RDO:0010093



show annotations for term's descendants           Sort by:
autosomal recessive nonsyndromic deafness 89 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kars1 lysyl-tRNA synthetase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 89
OMIM
CTD
ClinVar
PMID:21181198 PMID:21427441 PMID:23596069 PMID:23768514 PMID:24033266 More... NCBI chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    sensory system disease 6932
      Hearing Disorders 813
        Hearing Loss 808
          sensorineural hearing loss 618
            autosomal recessive nonsyndromic deafness 132
              autosomal recessive nonsyndromic deafness 89 1
Path 2
Term Annotations click to browse term
  disease 21121
    Pathological Conditions, Signs and Symptoms 13300
      Signs and Symptoms 10786
        Neurologic Manifestations 10019
          sensory system disease 6932
            Otorhinolaryngologic Diseases 1726
              auditory system disease 986
                Hearing Disorders 813
                  Hearing Loss 808
                    Deafness 365
                      nonsyndromic deafness 209
                        autosomal recessive nonsyndromic deafness 132
                          autosomal recessive nonsyndromic deafness 89 1
paths to the root