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facioscapulohumeral muscular dystrophy

Disease Summary
Associated Targets (402)
Tbio

251

Tdark

92

Tchem

41

Tclin

18


Mondo Description An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.
Mondo Term and Equivalent IDs
MONDO:0001347:  facioscapulohumeral muscular dystrophy
MESH:D020391: 
NCIT:C84704: 
Orphanet:269: 
SCTID:399091004: