| Metadata | |
|---|---|
| ID | DOID:0111185 |
| Name | myopathy, lactic acidosis, and sideroblastic anemia 1 |
| Definition | A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24. https://www.ncbi.nlm.nih.gov/pubmed/15108122 |
| Xrefs | |
| Synonyms |
MLASA1 [EXACT] |
| Parent Relationships |