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ONTOLOGY REPORT - ANNOTATIONS


Term:Ritscher-Schinzel syndrome 1
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Accession:DOID:0060571 term browser browse the term
Definition:A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24. (DO)
Synonyms:exact_synonym: RTSC1
 primary_id: OMIM:220210
 alt_id: RDO:9004062
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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

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Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Dandy-Walker syndrome 17
        Ritscher-Schinzel syndrome 3
          Ritscher-Schinzel syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        Congenital Abnormalities 3598
          Cardiovascular Abnormalities 916
            congenital heart disease 863
              heart septal defect 171
                atrial heart septal defect 58
                  Ritscher-Schinzel syndrome 3
                    Ritscher-Schinzel syndrome 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.