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Ritscher-Schinzel syndrome

Go to external page 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 ]

Synonyms: CCC dysplasia Craniocerebellocardiac dysplasia 3C syndrome craniocerebellocardiac dysplasia Ritscher-Schinzel syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:718556007 (MONDO:equivalentTo)
  • Orphanet:7 (MONDO:equivalentTo)
  • DOID:0060565 (MONDO:equivalentTo)
  • GARD:5666 (Orphanet:7)
  • MESH:C535313 (Orphanet:7/e)
  • OMIMPS:220210 (MONDO:equivalentTo)
  • UMLS:C0796137 (Orphanet:7/e)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

exactMatch

http://www.orpha.net/ORDO/Orphanet_7

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://identifiers.org/snomedct/718556007

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has related synonym

Dandy-Walker-like malformation with ASD

Dandy-Walker like malformation with atrioventricular septal defect

cranio-cerebello-cardiac dysplasia

Ritscher Schinzel syndrome

Ritscher-Schinzel cranio-cerebello-cardiac syndrome

Dandy-Walker-like malformation with atrioventricular septal defect

id

MONDO:0019078

seeAlso

https://rarediseases.info.nih.gov/diseases/5666/dandy-walker-like-malformation-with-atrioventricular-septal-defect