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Term:Cayman type cerebellar ataxia
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Accession:DOID:0060694 term browser browse the term
Definition:A cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3. (DO)
Synonyms:exact_synonym: ATCAY;   CAYMAN ATAXIA;   Cayman cerebellar ataxia
 primary_id: MESH:C563363
 alt_id: OMIM:601238;   RDO:0012641
 xref: ORDO:94122
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Cayman type cerebellar ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atcay ATCAY kinesin light chain interacting caytaxin JBrowse link 7 11,356,017 11,379,782 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7556
        genetic disease 7052
          monogenic disease 4684
            Cayman type cerebellar ataxia 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        central nervous system disease 8118
          brain disease 7587
            movement disease 1005
              Dyskinesias 713
                Ataxia 302
                  Spinocerebellar Ataxias 198
                    cerebellar ataxia 169
                      Cayman type cerebellar ataxia 1
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