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ONTOLOGY REPORT - ANNOTATIONS


Term:Cornelia de Lange syndrome 3
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Accession:DOID:0080507 term browser browse the term
Definition:A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2. (DO)
Synonyms:exact_synonym: CDLS3
 primary_id: OMIM:610759
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Cornelia de Lange syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smc3 structural maintenance of chromosomes 3 JBrowse link 1 274,310,120 274,352,856 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Cornelia de Lange syndrome 15
        Cornelia de Lange syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            disease of mental health 5514
              developmental disorder of mental health 2709
                specific developmental disorder 1880
                  intellectual disability 1703
                    Cornelia de Lange syndrome 15
                      Cornelia de Lange syndrome 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.