| Term Name: | myopathy, lactic acidosis, and sideroblastic anemia 1 |
|---|---|
| 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 ) |