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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 12
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Accession:DOID:0112370 term browser browse the term
Definition:A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33. (DO)
Synonyms:exact_synonym: BICRA-RELATED CONDITION;   CSS12
 primary_id: OMIM:619325
 alt_id: DOID:9003485


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Coffin-Siris syndrome 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICRA BRD4 interacting chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: BICRA-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 12 OMIM
ClinVar		 PMID:25741868 PMID:25741870 PMID:28492532 PMID:33232675 NCBI chr19:44,600,696...44,697,643
Ensembl chr19:53,323,064...53,350,987 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10173
      Coffin-Siris syndrome 19
        Coffin-Siris syndrome 12 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15262
      nervous system disease 13294
        central nervous system disease 11923
          brain disease 11205
            disease of mental health 8112
              developmental disorder of mental health 5548
                specific developmental disorder 4511
                  intellectual disability 4322
                    autosomal dominant intellectual developmental disorder 430
                      Coffin-Siris syndrome 19
                        Coffin-Siris syndrome 12 1
paths to the root