has material basis in germline mutation in DYSF autosomal recessive limb-girdle muscular dystrophy type 2B https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/autosomal_recessive_limb_girdle_muscular_dystrophy_type_2b https://www.malacards.org/card/muscular_dystrophy_limb_girdle_autosomal_recessive_2 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. UMLS:C1850889 OMIM:253601 GARD:0008574 NCIT:C142080 limb-girdle muscular dystrophy due to dysferlin deficiency Orphanet:268 limb-girdle muscular dystrophy type 2B MONDO:0009676 SCTID:718179003 autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF LGMD3 muscular dystrophy, limb-girdle, type 2B DOID:0110276 MEDGEN:338149 limb-girdle muscular dystrophy, type 2B LGMD2B muscular dystrophy, limb-girdle, autosomal recessive 2 DYSF autosomal recessive limb-girdle muscular dystrophy MESH:C535899 autosomal recessive limb-girdle muscular dystrophy neuromuscular disease caused by qualitative or quantitative defects of dysferlin