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ONTOLOGY REPORT - ANNOTATIONS


Term:CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY
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Accession:DOID:9009196 term browser browse the term
Definition:An autosomal recessive neurologic disorder characterized by cerebellar ataxia associated with atrophy of the cerebellar vermis on brain imaging.
Synonyms:exact_synonym: CASVDD
 primary_id: OMIM:618501
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CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 8 116,154,661 116,285,643 RGD:7240710
RGD:8554872
G Cyb561d2 cytochrome b561 family, member D2 JBrowse link 8 116,295,328 116,297,879 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      Neurodevelopmental Disorders 4071
        Developmental Disabilities 361
          CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY 2
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
            disease of mental health 5520
              Neurodevelopmental Disorders 4071
                Developmental Disabilities 361
                  CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.