FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal recessive limb-girdle muscular dystrophy type 27 ID (Ontology) DOID:0061133 (Human Disease)
Definition An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation that has_material_basis_in homozygous or compound heterozygous mutation in the JAG2 gene on chromosome 14q32.
Also Known As "LGMDR27"
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 Genes
 autosomal recessive limb-girdle muscular dystrophy type 27       1
 for disease ribbon | autosomal recessive limb-girdle muscular dystrophy type 27       1
 model of | autosomal recessive limb-girdle muscular dystrophy type 27       1
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autosomal recessive disease_____
limb-girdle muscular dystrophy__|
                                autosomal recessive limb-girdle muscular dystrophy
                                 |__autosomal recessive limb-girdle muscular dystrophy type 27  1 rec.
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Is a autosomal recessive limb-girdle muscular dystrophy
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Synonyms
  • "LGMDR27" EXACT OMO:0003012
Secondary IDs
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MIM:619566