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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
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  disease 14759
    Developmental Diseases 7628
      Neurodevelopmental Disorders 2745
        intellectual disability 1146
          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 2 1
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