Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


Term:Coffin-Siris Syndrome 5
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      Coffin-Siris syndrome 11
        Coffin-Siris Syndrome 5 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 5 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.