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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:Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4
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Accession:DOID:9006313 term browser browse the term
Synonyms:exact_synonym: CAMRQ4;   cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4;   cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4
 primary_id: OMIM:615268


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      cerebellar ataxia, mental retardation and dysequlibrium syndrome 3
        Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 0
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            movement disease 2340
              Dyskinesias 2003
                Ataxia 876
                  Spinocerebellar Ataxias 516
                    cerebellar ataxia 442
                      autosomal recessive cerebellar ataxia 149
                        cerebellar ataxia, mental retardation and dysequlibrium syndrome 3
                          Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 0
paths to the root