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Emery-Dreifuss muscular dystrophy

Disease Summary
Associated Targets (525)
Tbio

400

Tchem

82

Tdark

25

Tclin

18


GARD Rare
Mondo Description Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.
Disease Ontology Description A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.
Mondo Term and Equivalent IDs
MONDO:0016830:  Emery-Dreifuss muscular dystrophy
GARD:0006329: 
MESH:D020389: 
NCIT:C84685: 
OMIMPS:310300: 
Orphanet:261: 
SCTID:111508004: 
UMLS:C0410189: