Term Name: | myopathy, lactic acidosis, and sideroblastic anemia 1 |
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Synonyms: | MLASA1 |
Definition: | A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24. |
Ontology: | Human Disease [DOID:0111185] ( DOID:0111185 ) |