Term Name: | autosomal recessive limb-girdle muscular dystrophy type 2D |
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Synonyms: | Alpha-sarcoglycanopathy, DMDA2, Duchenne-like autosomal recessive muscular dystrophy type 2, LGMD2D, muscular dystrophy, limb-girdle, type 2D, primary adhalinopathy |
Definition: | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q. |
Ontology: | Human Disease [DOID:0110278] ( DOID:0110278 ) |