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Hirschsprung disease, cardiac defects, and autonomic dysfunction

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description A disorder characterized by skip-lesions Hirschsprung disease, craniofacial abnormalities and other dysmorphic features, cardiac defects including ductus arteriosus, small subaortic ventricular septal defect, small atrial septal defect, and autonomic dysfunction.
Mondo Term and Equivalent IDs
MONDO:0013473:  Hirschsprung disease, cardiac defects, and autonomic dysfunction
MESH:C563939: 
UMLS:C3151237: