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chronic atrial and intestinal dysrhythmia

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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).
Uniprot Description A disease characterized by dysregulation of the cardiac sinus node resulting in sick sinus syndrome, in association with chronic intestinal pseudo-obstruction, a disorder of gastrointestinal motility in which intestinal obstruction occurs in the absence of a mechanical obstacle.
Disease Ontology Description 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).
Mondo Term and Equivalent IDs
MONDO:0014528:  chronic atrial and intestinal dysrhythmia
GARD:0012281: 
Orphanet:435988: 
SCTID:720507006: 
UMLS:C4015474: