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Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1

Disease ID: disease_node_18040

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DbxrefMIM:600462
SubclassofDOID_0080099
Data SourceDOID
SynonymsMLASA1
Doid Labelmyopathy, lactic acidosis, and sideroblastic anemia 1
Doid DescriptionA myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24.
Disease Node Iddisease_node_18040
Doid IdDOID_0111185
LabelMyopathy, Lactic Acidosis, And Sideroblastic Anemia 1