Term Name: | myopathy, lactic acidosis, and sideroblastic anemia 2 |
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Synonyms: | MLASA2 |
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. |
Ontology: | Human Disease [DOID:0111186] ( DOID:0111186 ) |