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ONTOLOGY REPORT - ANNOTATIONS


Term:Ritscher-Schinzel syndrome 2
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Accession:DOID:0060572 term browser browse the term
Definition:An X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities. (OMIM)
Synonyms:exact_synonym: RTSC2
 primary_id: OMIM:300963
 alt_id: RDO:9000778
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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

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Path 1
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      Neurodevelopmental Disorders 4190
        intellectual disability 1798
          Ritscher-Schinzel syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        Congenital Abnormalities 3901
          Cardiovascular Abnormalities 1023
            congenital heart disease 972
              heart septal defect 172
                atrial heart septal defect 59
                  Ritscher-Schinzel syndrome 3
                    Ritscher-Schinzel syndrome 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.