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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 1
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Accession:DOID:9002943 term browser browse the term
Synonyms:exact_synonym: CAMRQ1;   CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1;   Chmrq1;   cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1;   cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
 primary_id: OMIM:224050
For additional species annotation, visit the Alliance of Genome Resources.


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Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
ClinVar
OMIM
PMID:11913577 PMID:16080122 PMID:18043714 PMID:18326629 PMID:18364738 PMID:18414213 PMID:22700954 PMID:22973972 PMID:25741868 PMID:28492532 NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
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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 1 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 1 1
paths to the root