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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Coffin-Siris syndrome 1  
Coffin-Siris syndrome 10  
Coffin-Siris syndrome 11  
Coffin-Siris syndrome 12  
Coffin-Siris syndrome 2  
Coffin-Siris syndrome 3  
Coffin-Siris syndrome 4  
A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2. (DO)
Coffin-Siris syndrome 5  
Coffin-Siris syndrome 6  
Coffin-Siris syndrome 7  
Coffin-Siris syndrome 8  
Coffin-Siris syndrome 9  

Synonyms
Exact Synonyms: CSS4 ;   MRD16 ;   autosomal dominant mental retardation 16
Broad Synonyms: SMARCA4-RELATED BAFOPATHY ;   SMARCA4-RELATED CONDITION
Primary IDs: MIM:614609
Definition Sources: PMID:22426308 "DO" "DO"

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