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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
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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:11554173
Ritscher-Schinzel syndrome 1 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:8554872
G Dpysl5 dihydropyrimidinase-like 5 JBrowse link 6 26,939,696 27,024,129 RGD:8554872
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:7240710
RGD:8554872
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 16022
    syndrome 6143
      Dandy-Walker syndrome 17
        Ritscher-Schinzel syndrome 3
          Ritscher-Schinzel syndrome 1 3
          Ritscher-Schinzel syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        Congenital Abnormalities 4509
          Cardiovascular Abnormalities 1091
            congenital heart disease 1040
              heart septal defect 123
                atrial heart septal defect 72
                  Ritscher-Schinzel syndrome 3
                    Ritscher-Schinzel syndrome 1 3
                    Ritscher-Schinzel syndrome 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.