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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:Gemignani Syndrome
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Accession:DOID:9001101 term browser browse the term
Synonyms:exact_synonym: Spinocerebellar ataxia associated with localized amyotrophy of the hands, sensorineural deafness and spastic paraparesis
 primary_id: MESH:C537678



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    syndrome 11377
      Gemignani Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19142
    Pathological Conditions, Signs and Symptoms 13627
      Signs and Symptoms 11216
        Neurologic Manifestations 10451
          sensory system disease 7373
            Otorhinolaryngologic Diseases 1799
              auditory system disease 1065
                Hearing Disorders 849
                  Hearing Loss 844
                    sensorineural hearing loss 648
                      Gemignani Syndrome 0
paths to the root