FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked Emery-Dreifuss muscular dystrophy 1 ID (Ontology) DOID:0070246 (Human Disease)
Definition An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28.
Also Known As "EDMD1" ; "EMD1" ; "Emery-Dreifuss muscular dystrophy 1, X-linked" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease_________
muscular dystrophy                     |
 |__Emery-Dreifuss muscular dystrophy__|
                                       X-linked Emery-Dreifuss muscular dystrophy 1
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Is a X-linked recessive disease
Emery-Dreifuss muscular dystrophy
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Synonyms
  • "EDMD1" EXACT OMO:0003012
    "EMD1" EXACT OMO:0003012
    "Emery-Dreifuss muscular dystrophy 1, X-linked" EXACT
    "humeroperoneal neuromuscular disease" EXACT
    "muscular dystrophy, tardive, Dreifuss-Emery type, with contractures" EXACT
    "scapuloperoneal syndrome, X-linked" EXACT
Secondary IDs
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MIM:310300