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 3 ID (Ontology) DOID:0070045 (Human Disease)
Definition A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23.
Also Known As "autosomal dominant mental retardation 15" ; "CSS3" ; "MRD15"
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DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
Human Disease Models (FBhh)  DOID       1
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Relevant FlyBase reports
 Alleles Genes Human Disease Models
 Coffin-Siris syndrome 3       1      1      1
 for disease ribbon | Coffin-Siris syndrome 3       --       1       --
 model of | Coffin-Siris syndrome 3       1      1       --
Spanning Tree (Parents/Children)
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autosomal dominant intellectual developmental disorder__
syndrome________________________________________________|
                                                        Coffin-Siris syndrome
                                                         |__Coffin-Siris syndrome 3  3 rec.
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Is a Coffin-Siris syndrome
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Synonyms
  • "autosomal dominant mental retardation 15" EXACT
    "CSS3" EXACT OMO:0003012
    "MRD15" EXACT OMO:0003012
Secondary IDs
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MIM:614608