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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


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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 term: Chronic atrial and intestinal dysrhythmia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25282101 PMID:25741868 NCBI chr 9:6,672,109...6,687,908
Ensembl chr 9:6,672,123...6,687,805 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      chronic atrial and intestinal dysrhythmia 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      gastrointestinal system disease 7095
        intestinal disease 3077
          intestinal obstruction 211
            ileus 32
              intestinal pseudo-obstruction 24
                chronic atrial and intestinal dysrhythmia 1
paths to the root