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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

MIM:613561

Synonyms

MLASA2 [EXACT]

Parent Relationships

is_a myopathy, lactic acidosis, and sideroblastic anemia

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