syndromic disease Hirschsprung disease-ganglioneuroblastoma syndrome https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/hirschsprung_disease_ganglioneuroblastoma_syndrome MESH:C538119 MONDO:0013082 GARD:0002695 MEDGEN:1683967 Hirschsprung disease ganglioneuroblastoma Orphanet:2151 UMLS:C5191058 A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated. intestinal motility disease