ZFIN Human Disease: Ritscher-Schinzel syndrome

OBO ID: DOID:0060565

Term Name:	Ritscher-Schinzel syndrome		Search Ontology:
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 OMIM:PS220210 ORDO:7 SNOMEDCT_US_2023_03_01:718556007 UMLS_CUI:C0796137
Ontology:	Human Disease ( DOID:0060565 )

Relationships

is a type of:	monogenic disease syndrome monogenic disease syndrome Show first 5 Terms
has subtype:	Ritscher-Schinzel syndrome 1 Ritscher-Schinzel syndrome 2 Ritscher-Schinzel syndrome 1 Ritscher-Schinzel syndrome 2 Show first 5 Terms

OTHER Ritscher-Schinzel syndrome PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None