About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/19/2024
MGI 6.23
The Jackson Laboratory