FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Ritscher-Schinzel syndrome ID (Ontology) DOID:0060565 (Human Disease)
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.
Also Known As "CCC dysplasia" ; "craniocerebellocardiac dysplasia"
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DO.org
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Spanning Tree (Parents/Children)
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disease
 |__syndrome___________
genetic disease        |
 |__monogenic disease__|
                       Ritscher-Schinzel syndrome  2 rec.
                        |__Ritscher-Schinzel syndrome 1 1 rec.
                        |__Ritscher-Schinzel syndrome 2 1 rec.
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Is a monogenic disease
syndrome
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Synonyms
  • "CCC dysplasia" EXACT
    "craniocerebellocardiac dysplasia" EXACT
Secondary IDs
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MESH:C535313
MIM:PS220210
ORDO:7
SNOMEDCT_US_2023_03_01:718556007
UMLS_CUI:C0796137