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Myofibrillar Myopathy 2

Disease ID: disease_node_18983

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DbxrefMIM:608810, ORDO:399058
SubclassofDOID_0050736, DOID_0080307
Data SourceDOID
Synonymsalpha-b crystallinopathy
Doid Labelmyofibrillar myopathy 2
Doid DescriptionA myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_18983
Doid IdDOID_0080093
LabelMyofibrillar Myopathy 2