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Summary Literature (0)
DOID:0111186 - myopathy, lactic acidosis, and sideroblastic anemia 2


Disease Ontology Definition:A 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.

Synonyms: MLASA2,

Xenbase Genes :



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): myopathy, lactic acidosis, and sideroblastic anemia (is_a)