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- B3daf49a0f158d08bb76ebd519bf83aaa hasDbXref "Orphanet:268" @default.
- B3daf49a0f158d08bb76ebd519bf83aaa type Axiom @default.
- B3daf49a0f158d08bb76ebd519bf83aaa annotatedProperty IAO_0000115 @default.
- B3daf49a0f158d08bb76ebd519bf83aaa annotatedSource MONDO_0009676 @default.
- B3daf49a0f158d08bb76ebd519bf83aaa annotatedTarget "Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed." @default.