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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:Richards-Rundle Syndrome
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Accession:DOID:9007933 term browser browse the term
Synonyms:exact_synonym: Ataxia-deafness-retardation syndrome with ketoaciduria;   Familial ataxia-hypogonadism syndrome;   Ketoaciduria With Mental Deficiency And Other Features;   Ketoaciduria-mental deficiency syndrome
 primary_id: MESH:C535674
 alt_id: OMIM:245100

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Path 1
Term Annotations click to browse term
  disease 14499
    syndrome 9538
      Richards-Rundle Syndrome 0
Path 2
Term Annotations click to browse term
  disease 14499
    Pathological Conditions, Signs and Symptoms 11295
      Signs and Symptoms 9364
        Neurologic Manifestations 9055
          sensory system disease 6299
            Otorhinolaryngologic Diseases 1595
              auditory system disease 900
                Hearing Disorders 735
                  Hearing Loss 730
                    Deafness 357
                      Richards-Rundle Syndrome 0
paths to the root