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 3 ID (Ontology) DOID:0060917 (Human Disease)
Definition A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression.
Also Known As "facioscapulohumeral muscular dystrophy type 3" ; "FSHD3"
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polygenic disease
 |__digenic disease_________________________
muscular dystrophy                          |
 |__facioscapulohumeral muscular dystrophy__|
                                            facioscapulohumeral muscular dystrophy 3
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Is a digenic disease
facioscapulohumeral muscular dystrophy
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Synonyms
  • "facioscapulohumeral muscular dystrophy type 3" EXACT
    "FSHD3" EXACT OMO:0003012
Secondary IDs
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MIM:619477