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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            movement disease 1404
              Dyskinesias 1073
                Ataxia 510
                  hereditary ataxia 370
                    episodic ataxia 34
                      Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis 1
paths to the root