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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:chronic atrial and intestinal dysrhythmia
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Accession:DOID:0060339 term browser browse the term
Definition:A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has_material_basis_in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). (DO)
Synonyms:exact_synonym: CAID;   CAID syndrome
 primary_id: OMIM:616201
 alt_id: RDO:9000750
For additional species annotation, visit the Alliance of Genome Resources.


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chronic atrial and intestinal dysrhythmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgo1 shugoshin 1 ISO ClinVar Annotator: match by OMIM:616201 ClinVar
OMIM
PMID:25282101 NCBI chr 9:4,420,158...4,435,939
Ensembl chr 9:4,421,069...4,436,601
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      chronic atrial and intestinal dysrhythmia 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      gastrointestinal system disease 4623
        Gastrointestinal Diseases 2542
          intestinal disease 1504
            intestinal obstruction 38
              ileus 27
                intestinal pseudo-obstruction 22
                  chronic atrial and intestinal dysrhythmia 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.