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

ONTOLOGY REPORT - ANNOTATIONS


Term:Coffin-Siris syndrome 6
go back to main search page
Accession:DOID:0080297 term browser browse the term
Definition:A disease characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. (OMIM)
Synonyms:exact_synonym: CSS6
 primary_id: OMIM:617808
 alt_id: DOID:9009052
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Coffin-Siris syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid2 AT-rich interaction domain 2 JBrowse link 7 137,680,564 137,798,329 RGD:8554872
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 6 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 6 1
paths to the root

NHLBI Logo

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