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ONTOLOGY REPORT - ANNOTATIONS


Term:Ritscher-Schinzel syndrome
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Accession:DOID:0060565 term browser browse the term
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.
Synonyms:exact_synonym: 3C syndrome;   CCC dysplasia;   Craniocerebellocardiac dysplasia;   Dandy-Walker-like malformation with atrioventricular septal defect;   RTSC
 primary_id: MESH:C535313
 alt_id: RDO:0000358
 xref: OMIM:PS220210;   ORDO:7
For additional species annotation, visit the Alliance of Genome Resources.


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Ritscher-Schinzel syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc22 coiled-coil domain containing 22 JBrowse link X 15,742,978 15,754,925 RGD:11554173
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:8554872
RGD:11554173
Ritscher-Schinzel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:7240710
Ritscher-Schinzel syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc22 coiled-coil domain containing 22 JBrowse link X 15,742,978 15,754,925 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Dandy-Walker syndrome 16
        Ritscher-Schinzel syndrome 2
          Ritscher-Schinzel syndrome 1 1
          Ritscher-Schinzel syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            cerebral degeneration 194
              hydrocephalus 91
                Dandy-Walker syndrome 16
                  Ritscher-Schinzel syndrome 2
                    Ritscher-Schinzel syndrome 1 1
                    Ritscher-Schinzel syndrome 2 1
paths to the root