FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Coffin-Siris syndrome 4 ID (Ontology) DOID:0070046 (Human Disease)
Definition A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2.
Also Known As "autosomal dominant mental retardation 16" ; "CSS4" ; "MRD16"
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DO.org
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 Coffin-Siris syndrome 4       1      1
 for disease ribbon | Coffin-Siris syndrome 4       1       --
 model of | Coffin-Siris syndrome 4       1       --
Spanning Tree (Parents/Children)
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autosomal dominant intellectual developmental disorder__
syndrome________________________________________________|
                                                        Coffin-Siris syndrome
                                                         |__Coffin-Siris syndrome 4  2 rec.
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Is a Coffin-Siris syndrome
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Synonyms
  • "autosomal dominant mental retardation 16" EXACT
    "CSS4" EXACT OMO:0003012
    "MRD16" EXACT OMO:0003012
Secondary IDs
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MIM:614609