FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Schuurs-Hoeijmakers Syndrome ID (Ontology) DOID:0070047 (Human Disease)
Definition An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2.
Also Known As "autosomal dominant mental retardation 17" ; "MRD17" ; "SHMS"
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 Genes
 Schuurs-Hoeijmakers Syndrome       1
 for disease ribbon | Schuurs-Hoeijmakers Syndrome       1
 model of | Schuurs-Hoeijmakers Syndrome       1
Spanning Tree (Parents/Children)
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autosomal dominant disease__
intellectual disability_____|
                            autosomal dominant intellectual developmental disorder
                             |__Schuurs-Hoeijmakers Syndrome  1 rec.
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Is a autosomal dominant intellectual developmental disorder
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Synonyms
  • "autosomal dominant mental retardation 17" EXACT
    "MRD17" EXACT OMO:0003012
    "SHMS" EXACT OMO:0003012
Secondary IDs
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MIM:615009