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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 3
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Accession:DOID:9005300 term browser browse the term
Synonyms:exact_synonym: CAMRQ3;   Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 3
 primary_id: MESH:C567690;   RDO:0015694
 alt_id: OMIM:613227
For additional species annotation, visit the Alliance of Genome Resources.


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Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ca8 carbonic anhydrase 8 ISO ClinVar Annotator: match by OMIM:613227
ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
OMIM
ClinVar
PMID:19461874 PMID:21937992 PMID:25741868 NCBI chr 5:21,249,018...21,345,810
Ensembl chr 5:21,249,020...21,345,810
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    syndrome 7653
      cerebellar ataxia, mental retardation and dysequlibrium syndrome 4
        Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        central nervous system disease 10202
          brain disease 9574
            movement disease 1239
              Dyskinesias 906
                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 3 1
paths to the root