| http://purl.uniprot.org/diseases/1748 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |