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ONTOLOGY REPORT - ANNOTATIONS


Term:Coffin-Siris Syndrome 5
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Accession:DOID:9009053 term browser browse the term
Definition:Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly. Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects. (OMIM)
Synonyms:exact_synonym: CSS5
 primary_id: OMIM:616938
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Coffin-Siris Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 JBrowse link 10 87,116,827 87,138,890 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Coffin-Siris syndrome 11
        Coffin-Siris Syndrome 5 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
                    non-syndromic intellectual disability 183
                      autosomal dominant non-syndromic intellectual disability 105
                        Coffin-Siris syndrome 11
                          Coffin-Siris Syndrome 5 1
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