Ritscher-Schinzel syndrome
http://purl.obolibrary.org/obo/MONDO_0019078
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput 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. [ Orphanet:7 ]
Term info
- DOID:0060565 (MONDO:equivalentTo)
- Orphanet:7 (MONDO:equivalentTo)
- UMLS:C0796137 (Orphanet:7/e)
- MESH:C535313 (Orphanet:7/e)
- GARD:0005666 (MONDO:equivalentTo)
- SCTID:718556007 (MONDO:equivalentTo)
- OMIMPS:220210 (MONDO:equivalentTo)
gard_rare, ordo_malformation_syndrome
https://github.com/monarch-initiative/mondo/issues/5588
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput 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.
http://purl.obolibrary.org/obo/DOID_0060565, http://identifiers.org/mesh/C535313, http://linkedlifedata.com/resource/umls/id/C0796137, https://omim.org/phenotypicSeries/PS220210, http://purl.obolibrary.org/obo/Orphanet_7, http://identifiers.org/snomedct/718556007
http://purl.obolibrary.org/obo/MONDO_0000508
CCC dysplasia, Craniocerebellocardiac dysplasia, 3C syndrome, Ritscher-Schinzel syndrome, craniocerebellocardiac dysplasia
Dandy-Walker-like malformation with ASD, Dandy-Walker like malformation with atrioventricular septal defect, cranio-cerebello-cardiac dysplasia, Ritscher-Schinzel cranio-cerebello-cardiac syndrome, Ritscher Schinzel syndrome, Dandy-Walker-like malformation with atrioventricular septal defect
MONDO:0019078
https://rarediseases.info.nih.gov/diseases/5666/dandy-walker-like-malformation-with-atrioventricular-septal-defect