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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 15602
    syndrome 5231
      Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        central nervous system disease 8136
          brain disease 7608
            movement disease 1011
              Dyskinesias 717
                Ataxia 307
                  hereditary ataxia 186
                    episodic ataxia 8
                      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.