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Term:Coffin-Siris syndrome 4
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Accession:DOID:0070046 term browser browse the term
Definition:A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of SMARCA4 on chromosome 19p13.2. (DO)
Synonyms:exact_synonym: CSS4;   MRD16;   autosomal dominant mental retardation 16
 primary_id: OMIM:614609
 alt_id: DOID:9000935;   RDO:9000542
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Coffin-Siris syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 8 22,648,323 22,739,468 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      Coffin-Siris syndrome 11
        Coffin-Siris syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        central nervous system disease 8075
          brain disease 7543
            disease of mental health 5494
              developmental disorder of mental health 2688
                specific developmental disorder 1856
                  intellectual disability 1685
                    non-syndromic intellectual disability 183
                      autosomal dominant non-syndromic intellectual disability 104
                        Coffin-Siris syndrome 11
                          Coffin-Siris syndrome 4 1
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