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ONTOLOGY REPORT - ANNOTATIONS


Term:cerebellar ataxia, mental retardation and dysequlibrium syndrome
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Accession:DOID:0050997 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia that is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. (DO)
Synonyms:exact_synonym: CAMRQ;   Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive;   Cerebellar Hypoplasia and Mental Retardation with Or without Quadrupedal Locomotion;   Cerebellar disorder, nonprogressive, with mental retardation;   DES;   Des-Vldlr;   Dysequilibrium Syndrome-Vldlr;   VLDLR-CH;   VLDLRCH;   Vldlr-Associated Cerebellar Hypoplasia;   autosomal recessive cerebellar ataxia with mental retardation;   autosomal recessive cerebellar hypoplasia with cerebral gyral simplification;   dysequilibrium syndrome
 primary_id: MESH:C535731
 alt_id: OMIA:001947;   RDO:0001014
 xref: GARD:1998;   OMIM:PS224050
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cerebellar ataxia, mental retardation and dysequlibrium syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp8a2 ATPase phospholipid transporting 8A2 JBrowse link 15 39,955,689 40,488,737 RGD:11554173
G Ca8 carbonic anhydrase 8 JBrowse link 5 21,249,018 21,345,810 RGD:13592920
G Vldlr very low density lipoprotein receptor JBrowse link 1 245,236,819 245,273,688 RGD:8554872
RGD:11554173
G Wdr81 WD repeat domain 81 JBrowse link 10 62,273,817 62,287,213 RGD:13592920
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vldlr very low density lipoprotein receptor JBrowse link 1 245,236,819 245,273,688 RGD:8554872
RGD:7240710
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr81 WD repeat domain 81 JBrowse link 10 62,273,817 62,287,213 RGD:7240710
RGD:8554872
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ca8 carbonic anhydrase 8 JBrowse link 5 21,249,018 21,345,810 RGD:7240710
RGD:8554872
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp8a2 ATPase phospholipid transporting 8A2 JBrowse link 15 39,955,689 40,488,737 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      cerebellar ataxia, mental retardation and dysequlibrium syndrome 4
        Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 1
        Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 1
        Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 1
        Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        central nervous system disease 8136
          brain disease 7608
            movement disease 1011
              Dyskinesias 717
                Ataxia 307
                  hereditary ataxia 186
                    cerebellar ataxia 169
                      autosomal recessive cerebellar ataxia 58
                        cerebellar ataxia, mental retardation and dysequlibrium syndrome 4
                          Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 1
                          Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 1
                          Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 1
                          Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.