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Disease Ontology Browser
Ritscher-Schinzel syndrome (DOID:0060565)
Alliance: disease page
Synonyms: CCC dysplasia; craniocerebellocardiac dysplasia
Alt IDs: MESH:C535313, OMIM:PS220210, ORDO:7, UMLS_CUI:C0796137
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory