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 4 ID (Ontology) DOID:0060918 (Human Disease)
Definition A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression.
Also Known As "facioscapulohumeral muscular dystrophy type 4" ; "FSHD4"
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polygenic disease
 |__digenic disease_________________________
muscular dystrophy                          |
 |__facioscapulohumeral muscular dystrophy__|
                                            facioscapulohumeral muscular dystrophy 4
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Is a digenic disease
facioscapulohumeral muscular dystrophy
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Synonyms
  • "facioscapulohumeral muscular dystrophy type 4" EXACT
    "FSHD4" EXACT OMO:0003012
Secondary IDs
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MIM:619478