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Ritscher-Schinzel syndrome

Disease Summary
Associated Targets (2)
Tbio

2


Explore Associated Targets
Mondo Description Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.
Disease Ontology Description A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.
Mondo Term and Equivalent IDs
MONDO:0019078:  Ritscher-Schinzel syndrome
GARD:0005666: 
MESH:C535313: 
OMIMPS:220210: 
Orphanet:7: 
SCTID:718556007: 
UMLS:C0796137: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)