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Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2

Disease ID: disease_node_18039

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DbxrefMIM:613561
SubclassofDOID_0080099
Data SourceDOID
SynonymsMLASA2
Doid Labelmyopathy, lactic acidosis, and sideroblastic anemia 2
Doid DescriptionA myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21.
Disease Node Iddisease_node_18039
Doid IdDOID_0111186
LabelMyopathy, Lactic Acidosis, And Sideroblastic Anemia 2