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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
 primary_id: MESH:C567656;   RDO:0015671
 alt_id: OMIM:610185
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:610185
ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
OMIM
ClinVar
PMID:16371500 PMID:21885617 PMID:25741868 PMID:26437881 PMID:28492532 NCBI chr10:62,273,817...62,287,213
Ensembl chr10:62,273,800...62,287,189
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      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 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            movement disease 1240
              Dyskinesias 907
                Ataxia 363
                  Spinocerebellar Ataxias 223
                    cerebellar ataxia 188
                      autosomal recessive cerebellar ataxia 68
                        cerebellar ataxia, mental retardation and dysequlibrium syndrome 4
                          Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 1
paths to the root