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Nemaline Myopathy 5C

Disease ID: disease_node_18934

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DbxrefMIM:620389
SubclassofDOID_0050736, DOID_3191
Data SourceDOID
Doid Labelnemaline myopathy 5C
Doid DescriptionA nemaline myopathy that has_material_basis_in autosomal domit inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_18934
Doid IdDOID_0081375
LabelNemaline Myopathy 5C