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ONTOLOGY REPORT - ANNOTATIONS


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
For additional species annotation, visit the Alliance of Genome Resources.


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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
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          monogenic disease 4656
            Cayman type cerebellar ataxia 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        central nervous system disease 8101
          brain disease 7571
            movement disease 1000
              Dyskinesias 709
                Ataxia 301
                  Spinocerebellar Ataxias 198
                    cerebellar ataxia 169
                      Cayman type cerebellar ataxia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.