FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term facioscapulohumeral muscular dystrophy 1 ID (Ontology) DOID:0111192 (Human Disease)
Definition A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35.
Also Known As "facioscapulohumeral muscular dystrophy type 1" ; "facioscapulohumeral muscular dystrophy type 1A" ; "FSHD1"
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 facioscapulohumeral muscular dystrophy 1       1      1
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  muscular dystrophy
   |__facioscapulohumeral muscular dystrophy
       |__facioscapulohumeral muscular dystrophy 1  2 rec.
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Is a facioscapulohumeral muscular dystrophy
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Synonyms
  • "facioscapulohumeral muscular dystrophy type 1" EXACT
    "facioscapulohumeral muscular dystrophy type 1A" EXACT
    "FSHD1" EXACT OMO:0003012
Secondary IDs
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MIM:158900