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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:Cataract Ataxia Deafness
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Accession:DOID:9000880 term browser browse the term
Synonyms:exact_synonym: Begeer syndrome;   Cataract ataxia deafness syndrome;   Cataract-ataxia-deafness-retardation syndrome;   Polyneuropathy-Cataract-Deafness Syndrome
 primary_id: MESH:C538283
 alt_id: OMIM:212710


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15264
      nervous system disease 13298
        peripheral nervous system disease 4043
          Cataract Ataxia Deafness 0
Path 2
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12039
      Signs and Symptoms 9970
        Neurologic Manifestations 9647
          sensory system disease 6633
            Otorhinolaryngologic Diseases 1673
              auditory system disease 940
                Hearing Disorders 766
                  Hearing Loss 760
                    sensorineural hearing loss 575
                      Cataract Ataxia Deafness 0
paths to the root