FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term autosomal recessive limb-girdle muscular dystrophy type 2Y ID (Ontology) DOID:0110289 (Human Disease)
Definition An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24.
Also Known As "autosomal recessive muscular dystrophy due to LAP1B deficiency" ; "autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency" ; "LGMD2Y" (for all, see Synonyms field below)
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autosomal recessive disease_____
limb-girdle muscular dystrophy__|
                                autosomal recessive limb-girdle muscular dystrophy
                                 |__autosomal recessive limb-girdle muscular dystrophy type 2Y
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Is a autosomal recessive limb-girdle muscular dystrophy
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Synonyms
  • "autosomal recessive muscular dystrophy due to LAP1B deficiency" EXACT
    "autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency" EXACT
    "LGMD2Y" EXACT OMO:0003012
    "muscular dystrophy with progressive weakness, distal contractures and rigid spine" EXACT
    "muscular dystrophy, limb-girdle, type 2Y" EXACT
Secondary IDs
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ICD10CM:G71.0
MIM:617072
ORDO:424261