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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 NCBI chr15:109,734,092...110,046,729
Ensembl chr15:109,735,595...110,046,704
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            movement disease 1097
              Dyskinesias 795
                Ataxia 341
                  hereditary ataxia 224
                    episodic ataxia 15
                      Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis 1
paths to the root