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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
Ontology
Human Disease   ( DOID:0060565 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models