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Congenital Muscular Dystrophy-Dystroglycanopathy Type A9

Disease ID: disease_node_17412

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DbxrefMIM:616538
SubclassofDOID_0111229
Data SourceDOID
SynonymsMDDGA9, Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related, congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9
Doid Labelcongenital muscular dystrophy-dystroglycanopathy type A9
Doid DescriptionA congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31.
Disease Node Iddisease_node_17412
Doid IdDOID_0111232
Disease Has Basis InHP_0001197
LabelCongenital Muscular Dystrophy-Dystroglycanopathy Type A9