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DO Term : Ritscher-Schinzel syndrome [DOID:0060565] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:718556007,
  • OMIM:PS220210,
  • CCC dysplasia,
  • UMLS_CUI:C0796137,
  • craniocerebellocardiac dysplasia,
  • MESH:C535313,
  • PS220210,
  • ORDO:7
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents