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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 the SMARCB1 gene on chromosome 22q11.23. (DO)
Synonyms:exact_synonym: CSS3;   MRD15;   autosomal dominant mental retardation 15
 primary_id: OMIM:614608


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Coffin-Siris syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DERL3 derlin 3 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr14:49,871,077...49,875,022
Ensembl chr14:49,871,218...49,877,672 		JBrowse link
G MMP11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr14:49,907,684...49,917,494
Ensembl chr14:49,907,687...49,912,617 		JBrowse link
G SLC2A11 solute carrier family 2 member 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr14:49,845,481...49,864,912
Ensembl chr14:49,845,324...49,863,188 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 OMIM
ClinVar		 PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 More... NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    syndrome 9894
      Coffin-Siris syndrome 19
        Coffin-Siris syndrome 3 4
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        central nervous system disease 11612
          brain disease 10901
            disease of mental health 7881
              developmental disorder of mental health 5352
                specific developmental disorder 4368
                  intellectual disability 4178
                    autosomal dominant intellectual developmental disorder 425
                      Coffin-Siris syndrome 19
                        Coffin-Siris syndrome 3 4
paths to the root