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ONTOLOGY REPORT - ANNOTATIONS


Term:episodic ataxia type 2
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Accession:DOID:0050990 term browser browse the term
Definition:An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A. (DO)
Synonyms:exact_synonym: APCA;   Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia;   Acetazolamide-responsive episodic ataxia syndrome;   Ataxia, Familial Paroxysmal;   CAPA;   Cerebellar ataxia, paroxysmal, Acetazolamide-responsive;   Cerebellopathy, hereditary paroxysmal;   EA2;   Episodic ataxia with nystagmus;   Nystagmus-associated episodic ataxia
 narrow_synonym: EPISODIC ATAXIA, TYPE 2, AND EPILEPSY
 primary_id: MESH:C535506
 alt_id: OMIM:108500;   RDO:0000648
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episodic ataxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit JBrowse link 8 84,338,631 84,640,251 RGD:1358446
RGD:7240710
RGD:8554872
RGD:11554173
RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12524
    disease of anatomical entity 12143
      nervous system disease 9641
        neurodegenerative disease 2588
          hereditary ataxia 183
            episodic ataxia 6
              episodic ataxia type 2 1
Path 2
Term Annotations click to browse term
  disease 12524
    disease of anatomical entity 12143
      nervous system disease 9641
        central nervous system disease 7759
          brain disease 7247
            movement disease 955
              Dyskinesias 670
                Ataxia 274
                  hereditary ataxia 183
                    episodic ataxia 6
                      episodic ataxia type 2 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.