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Term:Coffin-Siris syndrome 3
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Accession:DOID:0070045 term browser browse the term
Definition:A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of SMARCB1 on chromosome 22q11.23. (DO)
Synonyms:exact_synonym: CSS3;   MRD15;   autosomal dominant mental retardation 15
 primary_id: OMIM:614608
 alt_id: RDO:9000541
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Coffin-Siris syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 20 13,679,955 13,702,821 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Coffin-Siris syndrome 11
        Coffin-Siris syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          brain disease 7565
            disease of mental health 5517
              developmental disorder of mental health 2710
                specific developmental disorder 1882
                  intellectual disability 1705
                    non-syndromic intellectual disability 183
                      autosomal dominant non-syndromic intellectual disability 105
                        Coffin-Siris syndrome 11
                          Coffin-Siris syndrome 3 1
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