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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 2
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Accession:DOID:9006893 term browser browse the term
Synonyms:exact_synonym: CAMRQ2;   cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2;   cerebellar ataxia, impaired intellectual development, and dysquilibrium syndrome 2
 primary_id: MESH:C567656
 alt_id: OMIM:610185

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Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR81 WD repeat domain 81 ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 2 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 OMIM
ClinVar		 PMID:16371500 PMID:21885617 PMID:25558065 PMID:25741868 PMID:25741909 More... NCBI chr16:1,377,135...1,391,404
Ensembl chr16:1,377,669...1,391,404 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17472
    syndrome 9936
      cerebellar ataxia, mental retardation and dysequlibrium syndrome 4
        Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17472
    disease of anatomical entity 14861
      nervous system disease 12945
        central nervous system disease 11594
          brain disease 10881
            movement disease 2456
              Dyskinesias 2094
                Ataxia 925
                  Spinocerebellar Ataxias 538
                    cerebellar ataxia 463
                      autosomal recessive cerebellar ataxia 159
                        cerebellar ataxia, mental retardation and dysequlibrium syndrome 4
                          Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 1
paths to the root