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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



show annotations for term's descendants           Sort by:
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      chronic atrial and intestinal dysrhythmia 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      gastrointestinal system disease 7050
        intestinal disease 3073
          intestinal obstruction 211
            ileus 32
              intestinal pseudo-obstruction 24
                chronic atrial and intestinal dysrhythmia 1
paths to the root