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ONTOLOGY REPORT - ANNOTATIONS


Term:Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis
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Accession:DOID:9001769 term browser browse the term
Definition:A syndrome that includes subnormal intellectual functioning, intermittent inability to perform smoothly coordinated voluntary movements, and congenital, persistent flexure or contracture of a joint.
Synonyms:primary_id: RDO:9000517
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Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nalcn sodium leak channel, non-selective JBrowse link 15 109,734,092 110,046,729 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            movement disease 1068
              Dyskinesias 778
                Ataxia 333
                  hereditary ataxia 219
                    episodic ataxia 9
                      Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis 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.