FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Uruguay faciocardiomusculoskeletal syndrome ID (Ontology) DOID:0112148 (Human Disease)
Definition A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3.
Also Known As "FCMSU"
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DO.org
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 Genes
 Uruguay faciocardiomusculoskeletal syndrome       4
 for disease ribbon | Uruguay faciocardiomusculoskeletal syndrome       4
 model of | Uruguay faciocardiomusculoskeletal syndrome       4
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       |__Uruguay faciocardiomusculoskeletal syndrome  4 rec.
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Synonyms
  • "FCMSU" EXACT OMO:0003012
Secondary IDs
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MESH:C564544
MIM:300280