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Facioscapulohumeral Muscular Dystrophy 1

Disease ID: disease_node_18875

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DbxrefMIM:158900
SubclassofDOID_11727
Data SourceDOID
SynonymsFSHD1, facioscapulohumeral muscular dystrophy type 1, facioscapulohumeral muscular dystrophy type 1A
Doid Labelfacioscapulohumeral muscular dystrophy 1
Doid DescriptionA facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35.
Disease Node Iddisease_node_18875
Doid IdDOID_0111192
LabelFacioscapulohumeral Muscular Dystrophy 1