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Resources » Disease Ontology

autosomal recessive Emery-Dreifuss muscular dystrophy 3

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    autosomal recessive Emery-Dreifuss muscular dystrophy 3

    Ontology Term:
    Status:
    Live
    Synonym:
    EDMD3
    Emery-Dreifuss muscular dystrophy 3, autosomal recessive
    Type:
    Mapping to OMIM ID:
    Comparative Info:
    Learn more about this disease from studies in other model systems at the
    WormBase ID:
    DOID:0070248
    An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22.
    Child:
    Associations based on experimental data:
    Disease relevant gene:
    Automatic gene associations:
    Gene Human Orthologs
    lmn-1
    1 Inferred automatically: Inferred by orthology to human genes with OMIM annotation