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Summary Literature (0)
DOID:0060565 - Ritscher-Schinzel syndrome

Disease Ontology Definition: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.

Synonyms: 3C syndrome, CCC dysplasia, craniocerebellocardiac dysplasia,

Xenbase Genes : ccdc22, washc5

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019078 - Ritscher-Schinzel syndrome


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): monogenic disease (is_a), syndrome (is_a)