| Metadata | |
|---|---|
| ID | DOID:0111186 |
| Name | myopathy, lactic acidosis, and sideroblastic anemia 2 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/20598274, https://www.ncbi.nlm.nih.gov/pubmed/24344687 |
| Xrefs | |
| Synonyms |
MLASA2 [EXACT] |
| Parent Relationships |