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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: Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification;   CAMRQ;   CAMRQ1;   CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1;   Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive;   Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1;   Cerebellar Hypoplasia and Mental Retardation with Or without Quadrupedal Locomotion;   Cerebellar disorder, nonprogressive, with mental retardation;   Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1;   Chmrq1;   DES;   Des-Vldlr;   Dysequilibrium Syndrome-Vldlr;   VLDLRCH;   Vldlr-Associated Cerebellar Hypoplasia;   Vldlr-Ch;   autosomal recessive cerebellar ataxia with mental retardation;   dysequilibrium syndrome
 primary_id: MESH:C535731
 alt_id: OMIA:001947;   OMIM:224050;   RDO:0001014
 xref: GARD:1998
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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 Car8 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:7240710
RGD:8554872
G Wdr81 WD repeat domain 81 JBrowse link 10 62,273,817 62,287,213 RGD:13592920
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 Car8 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 14759
    syndrome 4210
      cerebellar ataxia, mental retardation and dysequlibrium syndrome 4
        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 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            movement disease 989
              Dyskinesias 702
                Ataxia 300
                  Spinocerebellar Ataxias 200
                    cerebellar ataxia 173
                      autosomal recessive cerebellar ataxia 65
                        cerebellar ataxia, mental retardation and dysequlibrium syndrome 4
                          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