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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Intellectual disability with episodic ataxia and congenital arthrogryposis ClinVar PMID:25683120 PMID:25741868 PMID:25864427 PMID:26763878 PMID:28454995 More... NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    syndrome 10725
      Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis 1
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      nervous system disease 14001
        central nervous system disease 12351
          brain disease 11585
            movement disease 2564
              Dyskinesias 2180
                Ataxia 941
                  hereditary ataxia 620
                    episodic ataxia 105
                      Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis 1
paths to the root