Metadata | |
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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 |