Search Ontology:
Human Disease
Ritscher-Schinzel syndrome
- Term ID
- DOID:0060565
- Synonyms
-
- CCC dysplasia
- craniocerebellocardiac dysplasia
- 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. https://en.wikipedia.org/wiki/3C_syndrome
- References
-
- MESH:C535313
- MIM:PS220210
- ORDO:7
- SNOMEDCT_US_2023_03_01:718556007
- UMLS_CUI:C0796137
- Ontology
- Human Disease ( DOID:0060565 )
- is a type of
-
- has subtype
-
Other Pages
Genes Involved
Zebrafish Models