FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term myofibrillar myopathy 3 ID (Ontology) DOID:0080094 (Human Disease)
Definition A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31.
Also Known As "autosomal dominant limb-girdle muscular dystrophy type 1A" ; "LGMD 1A" ; "LGMD1A" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
myopathy                        |
 |__myofibrillar myopathy_______|
                                myofibrillar myopathy 3
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Is a autosomal dominant disease
myofibrillar myopathy
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Synonyms
  • "autosomal dominant limb-girdle muscular dystrophy type 1A" EXACT
    "LGMD 1A" EXACT OMO:0003012
    "LGMD1A" EXACT OMO:0003012
    "myotilinopathy" EXACT
    "spheroid body myopathy" EXACT
Secondary IDs
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GARD:10229
GARD:8711
ICD10CM:G71.0
MESH:C000598645
MESH:C535906
MIM:609200
ORDO:266
ORDO:268129