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Muscular Dystrophy-Dystroglycanopathy Type B2

Disease ID: disease_node_17398

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DbxrefMIM:613156
SubclassofDOID_0112375, DOID_0050737
Data SourceDOID
SynonymsMDDGB2, congenital muscular dystrophy POMT2-related
Doid Labelmuscular dystrophy-dystroglycanopathy type B2
Doid DescriptionA muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_17398
Doid IdDOID_0112380
LabelMuscular Dystrophy-Dystroglycanopathy Type B2